Joubert Syndrome with Intellectual Disability: The First Documented Case from the United Arab Emirates

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The syndrome manifests through a constellation of neurological and systemic abnormalities, with cerebellar vermis agenesis producing the pathognomonic "molar tooth sign" on magnetic resonance imaging of the midbrain. We present a 28-year-old female with Joubert syndrome and comorbid mild intellectual disability (Full-Scale IQ 58), representing the first documented case with comprehensive neuropsychological assessment and intellectual disability evaluation in the United Arab Emirates. This report examines the patient's neurodevelopmental trajectory, cognitive profile, adaptive functioning, and management challenges within a psychiatry-focused framework. The case underscores the critical importance of multidisciplinary psychiatric and psychosocial support in addressing the complex neurobehavioral needs of adults with Joubert syndrome. Joubert syndrome intellectual disability molar tooth sign United Arab Emirates ciliopathy cerebellar cognitive affective syndrome neurodevelopmental disorders Introduction Joubert syndrome (JS) constitutes a rare autosomal recessive ciliopathy characterized by distinctive neurological and systemic manifestations. The syndrome derives its pathognomonic radiological hallmark—the "molar tooth sign" observed on axial brain magnetic resonance imaging (MRI) of the midbrain—from cerebellar vermis agenesis, abnormal brainstem morphology, and aberrant axonal decussation [1–3]. Epidemiology and Regional Significance Recent population-based studies challenge traditional prevalence estimates. Italian network data reveal a pediatric prevalence of 1.7 per 100,000 children aged 0-19 years, approximately tenfold higher than historical reports suggested [4]. The United Arab Emirates (UAE) demonstrates exceptional prevalence at 1:5,000 births, attributed to consanguinity rates of 20-60% across Arab populations and first-cousin unions comprising approximately 25% of marriages [5]. Comprehensive molecular characterization of 72 Arab families identifies 53 mutations across 15 genes, with CEP290 mutations predominating in the Arabian Gulf region, particularly the potential founder mutation p.G1890* in the UAE [5]. Pathophysiology: From Ciliary Dysfunction to Brain Malformation JS belongs to the expanding family of ciliopathies—disorders resulting from primary cilium dysfunction [6]. More than 40 genes associate with JS, all encoding proteins essential for ciliary formation or function, accounting for 60-94% of cases through primarily autosomal recessive inheritance [7,8]. Primary cilia function as cellular sensory organelles, with disruption impairing critical developmental signalling pathways including Sonic hedgehog (Shh), Wnt, and phosphoinositide signalling [6,9]. The pathognomonic molar tooth sign comprises three neuroanatomical abnormalities: thickened, elongated, horizontally-oriented superior cerebellar peduncles forming the "tooth roots"; a deepened interpeduncular fossa representing the central depression; and cerebellar vermis hypoplasia creating the characteristic gap [3]. Diffusion tensor imaging demonstrates that superior cerebellar peduncle decussation fails universally in JS patients, a pathognomonic finding reflecting disrupted midline axonal crossing [10]. Clinical Spectrum and Neurodevelopmental Features Clinical presentation demonstrates marked variability but typically includes developmental delay, hypotonia progressing to ataxia, oculomotor apraxia, and abnormal breathing patterns during infancy [3]. Developmental milestones show substantial delays, with average independent sitting at 19 months and independent walking at 4-5 years [11]. Associated systemic abnormalities include renal disease (30% of patients, predominantly nephronophthisis), hepatic fibrosis (43%, particularly congenital hepatic fibrosis with TMEM67 mutations), retinal dystrophy (20%), and polydactyly (8-16%) [12–14]. Intellectual Disability and Cognitive Profile Intellectual disability constitutes a core feature of JS, with severity ranging from mild to profound and complicating management and prognosis [11,15]. Comprehensive cognitive assessment of 54 Italian patients reveals that 89% demonstrate Intelligence Quotient (IQ) below the normal range (IQ <85), with mean IQ of 58 and an exceptional range from 15 to 129 [11]. Approximately 25% achieve borderline cognitive function or normal intelligence, but 75% manifest intellectual disability. Performance IQ (mean 59) consistently falls below Verbal IQ (mean 67), reflecting motor impairments' impact on performance-based assessments [11]. The cognitive profile aligns with Cerebellar Cognitive Affective Syndrome (CCAS), characterized by executive dysfunction, visuospatial deficits, language difficulties, and affect regulation problems [16,17]. Executive functions demonstrate the most prominent deficits, including impaired planning, set-shifting, abstract reasoning, working memory, and processing speed. Relative cognitive strengths include preserved communication skills, confrontation naming, and social motivation [11,15]. Psychiatric and Behavioural Manifestations Psychiatric disorders affect a substantial minority of JS patients, though recognition remains limited. Italian multicenter data reveal that 39% display emotional and behavioural problems affecting daily life, though only 7.4% reach formal psychiatric diagnosis thresholds [11]. French cohort data suggest even higher rates, with 83% manifesting psychiatric disorders across anxiety, depression, psychosis, pervasive developmental disorder, and behavioral dysregulation [18]. Three adult brothers (ages 25, 27, 32) illustrated the psychiatric burden across the lifespan: the eldest experienced mood dysregulation with auditory and visual hallucinations requiring multiple psychiatric hospitalizations; the middle brother developed depression and generalized anxiety disorder; the youngest required hospitalization twice for hallucinations, delusions of grandeur, unprovoked aggression, and suicidal depression [17]. These presentations exemplify CCAS persisting into adulthood, with attentional control most affected, prominent emotional dysregulation, and variable autism spectrum features [17]. Regional Context and Significance While very few genetic characterization studies and pediatric radiological case reports of JS have been published in the United Arab Emirates, detailed examinations of psychiatric manifestations, cognitive profiles, and psychosocial functioning remain absent from the regional literature. This report of a 28-year-old female with Joubert syndrome and comorbid mild intellectual disability represents the first comprehensive neuropsychiatric evaluation of an individual with JS in the UAE, holding both regional and clinical significance. The case provides critical insights into adult functioning, psychiatric manifestations, and psychosocial challenges in JS, contributing to understanding appropriate long-term management within a psychiatry-focused framework. Case Presentation The patient is a 28-year-old Indian female born to consanguineous parents. She presented with a history of global developmental delays and hypotonia observed during infancy. The patient had birth and neonatal complications including delayed crying for a few seconds and NICU admissions due to breathing difficulties. Early developmental milestones were significantly delayed, as neck control was only achieved at 2.5 years, and walking independently started at 4 years. Speech development was similarly delayed, with her first words being after 3-4 years. She required prolonged speech and language therapy and continues to experience difficulties with articulation and vocabulary. The patient is ambulatory without aids but has a history of frequent falls, which required physiotherapy and occupational therapy. Fine motor skills show impairment, therefore, the patient cannot do tasks requiring precision. Continence milestones were also delayed, as she achieved toilet training after age 6, and still needs assistance at times. She, however, still does activities such as swimming and cycling, with supervision. Socioadaptive functioning assessments revealed significant limitations. The patient can perform basic self-care activities such as brushing teeth and dressing, though she requires some supervision. She needs assistance with more complex tasks, including cooking, managing finances, and navigating public spaces. Despite repeated efforts by her family, she has yet to attain full independence in these tasks. Her educational history indicates an inability to progress beyond Grade 9 due to academic challenges, and she has been at home since. Neurological evaluation revealed ataxia and mild intellectual disability, confirmed with a Full-Scale IQ of 58 based on the Wechsler Adult Intelligence Scale. Associated comorbidities that the patient has include epilepsy, managed with sodium valproate since the age of 3 years, scoliosis, hearing impairment, and vision impairment requiring corrective glasses. The patient's family is supportive. She lives with her parents, who provide consistent supervision. Her daily routine includes structured recreational activities, such as watching television, yoga, and basic household chores under guidance. She has no history of challenging behaviours, mood disturbances, or psychotic symptoms, which highlights the stability provided by her supportive environment. Discussion Neurodevelopmental Trajectory and Cognitive Phenotype This patient's developmental trajectory exemplifies the characteristic delays documented in JS cohorts, with motor milestones showing the greatest impairment [ 11 ]. Her achievement of independent walking at age 4 years aligns closely with cohort means of 4–5 years, while speech emergence at 3–4 years reflects the typical pattern of expressive language impairment disproportionate to comprehension [ 15 ]. The Full-Scale IQ of 58 positions her at the cohort mean documented in the largest Italian study (mean IQ 58, range 15–129), representing mild intellectual disability within the broader JS spectrum [ 11 ]. Her cognitive profile demonstrates classic CCAS features. Executive dysfunction manifests through difficulty with complex tasks requiring planning and organization (cooking, financial management, navigation). Motor domain deficits prove most limiting, affecting personal care, social skills, and functional independence—consistent with findings that motor impairment represents the area of greatest vulnerability in JS (Bulgheroni et al., 2016). Relative preservation of communication skills enables basic social interaction despite intellectual limitations, aligning with documented patterns showing communication superiority relative to motor and daily living abilities [ 11 , 15 ]. Psychiatric Considerations and Behavioral Phenotype This patient demonstrates remarkable psychiatric stability despite substantial cognitive and motor impairments—an outcome attributable to robust family support and structured routine. The absence of challenging behaviours, mood disturbances, or psychotic symptoms contrasts sharply with the high prevalence (39–83%) of emotional and behavioral problems documented in JS cohorts [ 11 , 17 , 18 ]. Her benign psychiatric course likely reflects multiple protective factors: mild rather than severe intellectual disability, absence of seizure disorder complications (well-controlled epilepsy), preserved sensory function (corrected vision and hearing), and critically, consistent family engagement providing external support. Literature demonstrates that caregiver burden shows no relationship to illness severity—rather, parental burden depends more on coping skills and family functioning than on the child's disability level [ 19 ]. This patient's supportive family environment exemplifies effective coping strategies and their protective psychiatric effects. In contrast, the case series of three adult brothers with JS (ages 25, 27, and 32) illustrates how psychiatric symptoms may intensify across the lifespan when environmental supports prove insufficient [ 17 ]. Our patient's psychiatric stability at age 28, despite comparable intellectual disability, underscores the critical role of consistent family support in preventing psychiatric decompensation in adults with JS. Epilepsy affects approximately 10% of JS patients and associates with worse cognitive outcomes [ 15 ]. This patient's well-controlled seizures on monotherapy represent optimal management, minimizing potential negative effects on neuropsychological function. The choice of sodium valproate proves appropriate for long-term epilepsy management in JS, balancing efficacy against cognitive side effects. Adult Functional Outcomes and Quality of Life Adult outcome studies remain limited, but available data inform expectations. Italian ICF (International Classification of Functioning) study of 36 adults with JS identifies none-to-mild impairment in basic cognitive and mental functions but severe deficits in higher-order skills and language [ 20 ]. Critically, researchers document substantial mismatch between capacity for daily activities and social participation versus actual performance, implying that adults with JS greatly benefit from external support from caring environments—precisely the pattern this patient demonstrates [ 20 ]. Most adults with JS require day programs for social and functional skills rather than competitive employment. Educational outcomes range from special education certificates to rare college attendance in individuals with borderline to normal cognition. Living situations predominantly involve residence with parents, though some achieve supported living arrangements. The degree of independence correlates with cognitive function level and motor capabilities [ 20 ]. This patient's continued residence with parents, inability to progress beyond Grade 9, and need for supervision align with expected outcomes for mild intellectual disability. Mortality data suggest mean age at death of 7.2 years in deceased cohorts, with respiratory failure (35%) predominating in children under 6 years and kidney failure (37.5%) more common in older individuals [ 21 ]. However, multiple case reports document survival into the 30s with exceptional longevity to the 60s in mild phenotypes, establishing that adult survival proves achievable with appropriate multidisciplinary care [ 21 ]. This patient's relative health stability at age 28, lacking severe renal or hepatic involvement, suggests favourable long-term prognosis. Management Principles and Therapeutic Interventions Multidisciplinary Coordination Expert consensus recommends one provider serving as lead coordinator to centralize information across the essential specialist team: geneticists, neurologists, developmental specialists, psychiatrists/psychologists, therapists, educators, social workers, and primary care physicians (Bachmann-Gagescu et al., 2020). Baseline comprehensive evaluation upon diagnosis establishes the phenotype, with yearly evaluations monitoring growth, vision, liver and kidney function, and neuropsychological status (Bachmann-Gagescu et al., 2020). Cognitive and Adaptive Interventions Assessment requires accounting for motor and sensory limitations, using both Full Scale IQ and Generalized Ability Index (less reliant on speeded/motor tasks) to provide more accurate cognitive representation (Bachmann-Gagescu et al., 2020). Special education services through individualized programs focus on building strengths while addressing weaknesses, with adaptive curricula accommodating processing speed deficits. Early intervention programs from diagnosis forward, incorporating infant stimulation, parent-child interaction therapy, developmental monitoring, and family education, optimize trajectories across critical developmental periods (Bachmann-Gagescu et al., 2020; Gagliardi et al., 2015). Cognitive rehabilitation shows effectiveness in single-case studies, with intensive, focused, goal-directed programs targeting visual-perceptual skills, sequential skills, and executive functions (Gagliardi et al., 2015). Short-term intensive interventions (daily for weeks to months) demonstrate benefits equivalent to longer-term approaches with less interference in daily life. Physical and Occupational Therapy Physical therapy employing neurodevelopmental treatment principles achieves measurable functional gains (İpek et al., 2017). Weight-bearing and joint compression techniques, stretching exercises, motor control activities, positioning strategies, and gait training with assistive devices constitute evidence-based approaches. Occupational therapy develops fine motor skills and activities of daily living competencies through hand function activities, adaptive equipment training, and sensory integration therapy (Bachmann-Gagescu et al., 2020). Psychiatric Management Behavioral interventions including applied behavioral analysis, parent-child interaction therapy, adapted cognitive-behavioral therapy, structured routines with visual supports, and positive behavioral support plans constitute first-line approaches [ 7 ]. Psychopharmacological treatment follows standard psychiatric guidelines without JS-specific protocols: SSRIs treat depression and anxiety, mood stabilizers address affective dysregulation, antipsychotics (used cautiously) manage psychotic symptoms or severe aggression, and stimulants target ADHD symptoms when appropriate [ 7 ]. Critical principles include medical optimization before psychiatric treatment (pain and illness exacerbate behavioral issues), start-low-go-slow approaches given neurological vulnerability, monitoring for side effects particularly sedation and extrapyramidal symptoms, and regular medication reviews [ 7 ]. Systematic Surveillance Annual monitoring includes ophthalmologic examination with electroretinography screening for retinal dystrophy, renal surveillance (blood pressure, serum electrolytes, creatinine, urinalysis), hepatic monitoring (liver enzymes, platelet counts for portal hypertension indicators), sleep-disordered breathing assessment, and scoliosis evaluation [ 7 , 12 , 22 ]. Regional Implications and Healthcare System Considerations The UAE's exceptional JS prevalence of 1:5,000 births necessitates regional healthcare system adaptations [ 5 ]. Comprehensive molecular characterization identifies CEP290 as the predominant causative gene in the Arabian Gulf, with the p.G1890* variant representing a potential founder mutation [ 5 ]. Pre-marital genetic counselling and carrier screening for founder mutations could substantially reduce disease burden in high-prevalence populations, though implementation faces cultural and logistical barriers. Specialized centers catering to the needs of individuals with JS and similar conditions remain needed in the UAE, as such cases often leave families shouldering care burdens without adequate institutional support. Introducing comprehensive care models and accessible support systems—including respite care services, support groups ( Joubert Syndrome & Related Disorders Foundation ), mental health support for family members, and care coordination assistance—could significantly improve outcomes [ 7 ]. While implementation faces cultural and logistical barriers, establishing accessible genetic testing services and culturally sensitive counselling protocols represents a critical public health priority. Integration of JS screening into existing pre-marital screening programs—which currently test for conditions like thalassemia and sickle cell disease—would provide a pragmatic pathway for reducing the incidence of this debilitating condition while respecting cultural considerations around consanguineous marriage. Comparative Analysis and Prognostic Factors Comparing this case with global reports, the absence of severe renal or hepatic involvement proves notable and prognostically favourable. The patient's relatively stable health status allows focus on enhancing socio-adaptive skills and independence rather than managing progressive organ failure. However, her limited numeracy and literacy, combined with the need for continuous supervision, highlight persistent challenges in fostering autonomy despite favourable medical status. Neuroimaging severity predicts neurodevelopmental outcomes more reliably than genotype [ 10 ]. Greater vermis hypoplasia correlates with worse cognitive and motor function. Gene-specific patterns show CEP290 mutations often associating with severe global developmental impairment, particularly when retinal disease causes congenital blindness, while other genes show variable penetrance [ 23 ]. The degree of cerebellar vermis hypoplasia on this patient's imaging would predict her cognitive trajectory more accurately than genetic testing alone. Future Research Directions Further research priorities include prospective longitudinal studies of psychiatric manifestations across the lifespan, controlled trials of cognitive rehabilitation interventions, investigation of gene-specific psychiatric phenotypes, development of JS-specific quality-of-life measures incorporating family perspectives, and evaluation of structured family support programs' efficacy in reducing caregiver burden and optimizing patient outcomes. Conclusion This case represents the first comprehensive neuropsychiatric evaluation of an adult with Joubert syndrome in the UAE, highlighting the critical importance of psychiatric integration within multidisciplinary care. The patient's favourable outcome at age 28 underscores that family support emerges as the most powerful protective factor against psychiatric decompensation—with caregiver burden depending more on coping skills than illness severity. The case demonstrates that adults with JS and mild-to-moderate intellectual disability can achieve stable psychiatric health and meaningful quality of life when provided with appropriate multidisciplinary support and engaged family care. Adult outcomes remain highly variable, necessitating individualized rather than protocol-driven interventions. Further research should focus on longitudinal psychiatric outcomes and structured family support interventions. Regional awareness, genetic counselling initiatives, and comprehensive support systems remain imperative to optimize outcomes for individuals with JS in the UAE and broader Middle Eastern region. Declarations Ethics approval and consent to participate Ethical approval was not required for this case report, as it involves a single case description without experimental interventions. This case report adhered to ethical principles, ensuring patient confidentiality by anonymizing identifying information and obtaining institutional approval where required. Its primary aim is to contribute to clinical knowledge and enhance patient care without compromising the dignity or rights of the individual involved. Informed consent for publication was obtained from all participants and their families. Consent for publication Consent for publication was obtained by all participants in this study. Availability of data and material Data sharing is not applicable to this article as no datasets were generated or analysed during the current study. Competing interests The authors declare that they have no competing interests Funding Not applicable. Authors' contributions J.S.A.J.A.: Acquisition of clinical data, analysis and interpretation of clinical information, and drafting the initial manuscript. S.A.B.: Substantially contributed to drafting the initial manuscript, critically revising the manuscript for important intellectual content, and assisted with interpretation and synthesis of clinical information. M.D.T.: Provided substantial contributions to the conception and design of the manuscript, analysis and interpretation of clinical information, critically revised the manuscript for important intellectual content, and provided supervision throughout manuscript preparation. 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Cite Share Download PDF Status: Published Journal Publication published 21 Jan, 2026 Read the published version in Middle East Current Psychiatry → Version 1 posted Editorial decision: Revision requested 23 Nov, 2025 Reviews received at journal 21 Nov, 2025 Reviews received at journal 21 Nov, 2025 Reviewers agreed at journal 11 Nov, 2025 Reviewers agreed at journal 11 Nov, 2025 Reviewers invited by journal 11 Nov, 2025 Editor assigned by journal 11 Nov, 2025 Submission checks completed at journal 11 Nov, 2025 First submitted to journal 05 Nov, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. 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16:12:57","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":716613,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-8036813/v1/a6afa68c-d770-4772-8fe4-0e665365c5f0.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Joubert Syndrome with Intellectual Disability: The First Documented Case from the United Arab Emirates","fulltext":[{"header":"Introduction","content":"\u003cp\u003eJoubert syndrome (JS) constitutes a rare autosomal recessive ciliopathy characterized by distinctive neurological and systemic manifestations. The syndrome derives its pathognomonic radiological hallmark—the \"molar tooth sign\" observed on axial brain magnetic resonance imaging (MRI) of the midbrain—from cerebellar vermis agenesis, abnormal brainstem morphology, and aberrant axonal decussation\u0026nbsp;[1–3].\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEpidemiology and Regional Significance\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eRecent population-based studies challenge traditional prevalence estimates. Italian network data reveal a pediatric prevalence of 1.7 per 100,000 children aged 0-19 years, approximately tenfold higher than historical reports suggested [4]. The United Arab Emirates (UAE) demonstrates exceptional prevalence at 1:5,000 births, attributed to consanguinity rates of 20-60% across Arab populations and first-cousin unions comprising approximately 25% of marriages [5]. Comprehensive molecular characterization of 72 Arab families identifies 53 mutations across 15 genes, with CEP290 mutations predominating in the Arabian Gulf region, particularly the potential founder mutation p.G1890* in the UAE [5].\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003ePathophysiology: From Ciliary Dysfunction to Brain Malformation\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eJS belongs to the expanding family of ciliopathies—disorders resulting from primary cilium dysfunction [6]. More than 40 genes associate with JS, all encoding proteins essential for ciliary formation or function, accounting for 60-94% of cases through primarily autosomal recessive inheritance [7,8]. Primary cilia function as cellular sensory organelles, with disruption impairing critical developmental signalling pathways including Sonic hedgehog (Shh), Wnt, and phosphoinositide signalling [6,9].\u003c/p\u003e\n\u003cp\u003eThe pathognomonic molar tooth sign comprises three neuroanatomical abnormalities: thickened, elongated, horizontally-oriented superior cerebellar peduncles forming the \"tooth roots\"; a deepened interpeduncular fossa representing the central depression; and cerebellar vermis hypoplasia creating the characteristic gap [3]. Diffusion tensor imaging demonstrates that superior cerebellar peduncle decussation fails universally in JS patients, a pathognomonic finding reflecting disrupted midline axonal crossing [10].\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eClinical Spectrum and Neurodevelopmental Features\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eClinical presentation demonstrates marked variability but typically includes developmental delay, hypotonia progressing to ataxia, oculomotor apraxia, and abnormal breathing patterns during infancy [3]. Developmental milestones show substantial delays, with average independent sitting at 19 months and independent walking at 4-5 years [11]. Associated systemic abnormalities include renal disease (30% of patients, predominantly nephronophthisis), hepatic fibrosis (43%, particularly congenital hepatic fibrosis with TMEM67 mutations), retinal dystrophy (20%), and polydactyly (8-16%)\u0026nbsp;[12–14].\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eIntellectual Disability and Cognitive Profile\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eIntellectual disability constitutes a core feature of JS, with severity ranging from mild to profound and complicating management and prognosis [11,15]. Comprehensive cognitive assessment of 54 Italian patients reveals that 89% demonstrate Intelligence Quotient (IQ) below the normal range (IQ \u0026lt;85), with mean IQ of 58 and an exceptional range from 15 to 129 [11]. Approximately 25% achieve borderline cognitive function or normal intelligence, but 75% manifest intellectual disability. Performance IQ (mean 59) consistently falls below Verbal IQ (mean 67), reflecting motor impairments' impact on performance-based assessments [11].\u003c/p\u003e\n\u003cp\u003eThe cognitive profile aligns with Cerebellar Cognitive Affective Syndrome (CCAS), characterized by executive dysfunction, visuospatial deficits, language difficulties, and affect regulation problems [16,17]. Executive functions demonstrate the most prominent deficits, including impaired planning, set-shifting, abstract reasoning, working memory, and processing speed. Relative cognitive strengths include preserved communication skills, confrontation naming, and social motivation [11,15].\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003ePsychiatric and Behavioural Manifestations\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003ePsychiatric disorders affect a substantial minority of JS patients, though recognition remains limited. Italian multicenter data reveal that 39% display emotional and behavioural problems affecting daily life, though only 7.4% reach formal psychiatric diagnosis thresholds [11]. French cohort data suggest even higher rates, with 83% manifesting psychiatric disorders across anxiety, depression, psychosis, pervasive developmental disorder, and behavioral dysregulation [18].\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eThree adult brothers (ages 25, 27, 32) illustrated the psychiatric burden across the lifespan: the eldest experienced mood dysregulation with auditory and visual hallucinations requiring multiple psychiatric hospitalizations; the middle brother developed depression and generalized anxiety disorder; the youngest required hospitalization twice for hallucinations, delusions of grandeur, unprovoked aggression, and suicidal depression [17]. These presentations exemplify CCAS persisting into adulthood, with attentional control most affected, prominent emotional dysregulation, and variable autism spectrum features [17].\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eRegional Context and Significance\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWhile very few genetic characterization studies and pediatric radiological case reports of JS have been published in the United Arab Emirates, detailed examinations of psychiatric manifestations, cognitive profiles, and psychosocial functioning remain absent from the regional literature. This report of a 28-year-old female with Joubert syndrome and comorbid mild intellectual disability represents the first comprehensive neuropsychiatric evaluation of an individual with JS in the UAE, holding both regional and clinical significance. The case provides critical insights into adult functioning, psychiatric manifestations, and psychosocial challenges in JS, contributing to understanding appropriate long-term management within a psychiatry-focused framework.\u003c/p\u003e"},{"header":"Case Presentation","content":"\u003cp\u003eThe patient is a 28-year-old Indian female born to consanguineous parents. She presented with a history of global developmental delays and hypotonia observed during infancy. The patient had birth and neonatal complications including delayed crying for a few seconds and NICU admissions due to breathing difficulties. Early developmental milestones were significantly delayed, as neck control was only achieved at 2.5 years, and walking independently started at 4 years. Speech development was similarly delayed, with her first words being after 3-4 years. She required prolonged speech and language therapy and continues to experience difficulties with articulation and vocabulary.\u003c/p\u003e\n\u003cp\u003eThe patient is ambulatory without aids but has a history of frequent falls, which required physiotherapy and occupational therapy. Fine motor skills show impairment, therefore, the patient cannot do tasks requiring precision. Continence milestones were also delayed, as she achieved toilet training after age 6, and still needs assistance at times. She, however, still does activities such as swimming and cycling, with supervision.\u003c/p\u003e\n\u003cp\u003eSocioadaptive functioning assessments revealed significant limitations. The patient can perform basic self-care activities such as brushing teeth and dressing, though she requires some supervision. She needs assistance with more complex tasks, including cooking, managing finances, and navigating public spaces. Despite repeated efforts by her family, she has yet to attain full independence in these tasks. Her educational history indicates an inability to progress beyond Grade 9 due to academic challenges, and she has been at home since.\u003c/p\u003e\n\u003cp\u003eNeurological evaluation revealed ataxia and mild intellectual disability, confirmed with a Full-Scale IQ of 58 based on the Wechsler Adult Intelligence Scale. Associated comorbidities that the patient has include epilepsy, managed with sodium valproate since the age of 3 years, scoliosis, hearing impairment, and vision impairment requiring corrective glasses.\u003c/p\u003e\n\u003cp\u003eThe patient's family is supportive. She lives with her parents, who provide consistent supervision. Her daily routine includes structured recreational activities, such as watching television, yoga, and basic household chores under guidance. She has no history of challenging behaviours, mood disturbances, or psychotic symptoms, which highlights the stability provided by her supportive environment.\u003c/p\u003e"},{"header":"Discussion","content":"\u003cdiv id=\"Sec10\" class=\"Section2\"\u003e\u003ch2\u003eNeurodevelopmental Trajectory and Cognitive Phenotype\u003c/h2\u003e\u003cp\u003eThis patient's developmental trajectory exemplifies the characteristic delays documented in JS cohorts, with motor milestones showing the greatest impairment [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e]. Her achievement of independent walking at age 4 years aligns closely with cohort means of 4\u0026ndash;5 years, while speech emergence at 3\u0026ndash;4 years reflects the typical pattern of expressive language impairment disproportionate to comprehension [\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]. The Full-Scale IQ of 58 positions her at the cohort mean documented in the largest Italian study (mean IQ 58, range 15\u0026ndash;129), representing mild intellectual disability within the broader JS spectrum [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eHer cognitive profile demonstrates classic CCAS features. Executive dysfunction manifests through difficulty with complex tasks requiring planning and organization (cooking, financial management, navigation). Motor domain deficits prove most limiting, affecting personal care, social skills, and functional independence\u0026mdash;consistent with findings that motor impairment represents the area of greatest vulnerability in JS (Bulgheroni et al., 2016). Relative preservation of communication skills enables basic social interaction despite intellectual limitations, aligning with documented patterns showing communication superiority relative to motor and daily living abilities [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e, \u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e].\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec11\" class=\"Section2\"\u003e\u003ch2\u003ePsychiatric Considerations and Behavioral Phenotype\u003c/h2\u003e\u003cp\u003eThis patient demonstrates remarkable psychiatric stability despite substantial cognitive and motor impairments\u0026mdash;an outcome attributable to robust family support and structured routine. The absence of challenging behaviours, mood disturbances, or psychotic symptoms contrasts sharply with the high prevalence (39\u0026ndash;83%) of emotional and behavioral problems documented in JS cohorts [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e, \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e]. Her benign psychiatric course likely reflects multiple protective factors: mild rather than severe intellectual disability, absence of seizure disorder complications (well-controlled epilepsy), preserved sensory function (corrected vision and hearing), and critically, consistent family engagement providing external support.\u003c/p\u003e\u003cp\u003eLiterature demonstrates that caregiver burden shows no relationship to illness severity\u0026mdash;rather, parental burden depends more on coping skills and family functioning than on the child's disability level [\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e]. This patient's supportive family environment exemplifies effective coping strategies and their protective psychiatric effects. In contrast, the case series of three adult brothers with JS (ages 25, 27, and 32) illustrates how psychiatric symptoms may intensify across the lifespan when environmental supports prove insufficient [\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e]. Our patient's psychiatric stability at age 28, despite comparable intellectual disability, underscores the critical role of consistent family support in preventing psychiatric decompensation in adults with JS.\u003c/p\u003e\u003cp\u003eEpilepsy affects approximately 10% of JS patients and associates with worse cognitive outcomes [\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]. This patient's well-controlled seizures on monotherapy represent optimal management, minimizing potential negative effects on neuropsychological function. The choice of sodium valproate proves appropriate for long-term epilepsy management in JS, balancing efficacy against cognitive side effects.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec12\" class=\"Section2\"\u003e\u003ch2\u003eAdult Functional Outcomes and Quality of Life\u003c/h2\u003e\u003cp\u003eAdult outcome studies remain limited, but available data inform expectations. Italian ICF (International Classification of Functioning) study of 36 adults with JS identifies none-to-mild impairment in basic cognitive and mental functions but severe deficits in higher-order skills and language [\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e]. Critically, researchers document substantial mismatch between capacity for daily activities and social participation versus actual performance, implying that adults with JS greatly benefit from external support from caring environments\u0026mdash;precisely the pattern this patient demonstrates [\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eMost adults with JS require day programs for social and functional skills rather than competitive employment. Educational outcomes range from special education certificates to rare college attendance in individuals with borderline to normal cognition. Living situations predominantly involve residence with parents, though some achieve supported living arrangements. The degree of independence correlates with cognitive function level and motor capabilities [\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e]. This patient's continued residence with parents, inability to progress beyond Grade 9, and need for supervision align with expected outcomes for mild intellectual disability.\u003c/p\u003e\u003cp\u003eMortality data suggest mean age at death of 7.2 years in deceased cohorts, with respiratory failure (35%) predominating in children under 6 years and kidney failure (37.5%) more common in older individuals [\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e]. However, multiple case reports document survival into the 30s with exceptional longevity to the 60s in mild phenotypes, establishing that adult survival proves achievable with appropriate multidisciplinary care [\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e]. This patient's relative health stability at age 28, lacking severe renal or hepatic involvement, suggests favourable long-term prognosis.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec13\" class=\"Section2\"\u003e\u003ch2\u003eManagement Principles and Therapeutic Interventions\u003c/h2\u003e\u003cdiv id=\"Sec14\" class=\"Section3\"\u003e\u003ch2\u003eMultidisciplinary Coordination\u003c/h2\u003e\u003cp\u003eExpert consensus recommends one provider serving as lead coordinator to centralize information across the essential specialist team: geneticists, neurologists, developmental specialists, psychiatrists/psychologists, therapists, educators, social workers, and primary care physicians (Bachmann-Gagescu et al., 2020). Baseline comprehensive evaluation upon diagnosis establishes the phenotype, with yearly evaluations monitoring growth, vision, liver and kidney function, and neuropsychological status\u003c/p\u003e\u003cp\u003e(Bachmann-Gagescu et al., 2020).\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv id=\"Sec15\" class=\"Section2\"\u003e\u003ch2\u003eCognitive and Adaptive Interventions\u003c/h2\u003e\u003cp\u003eAssessment requires accounting for motor and sensory limitations, using both Full Scale IQ and Generalized Ability Index (less reliant on speeded/motor tasks) to provide more accurate cognitive representation (Bachmann-Gagescu et al., 2020). Special education services through individualized programs focus on building strengths while addressing weaknesses, with adaptive curricula accommodating processing speed deficits. Early intervention programs from diagnosis forward, incorporating infant stimulation, parent-child interaction therapy, developmental monitoring, and family education, optimize trajectories across critical developmental periods (Bachmann-Gagescu et al., 2020; Gagliardi et al., 2015).\u003c/p\u003e\u003cp\u003eCognitive rehabilitation shows effectiveness in single-case studies, with intensive, focused, goal-directed programs targeting visual-perceptual skills, sequential skills, and executive functions (Gagliardi et al., 2015). Short-term intensive interventions (daily for weeks to months) demonstrate benefits equivalent to longer-term approaches with less interference in daily life.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec16\" class=\"Section2\"\u003e\u003ch2\u003ePhysical and Occupational Therapy\u003c/h2\u003e\u003cp\u003ePhysical therapy employing neurodevelopmental treatment principles achieves measurable functional gains (İpek et al., 2017). Weight-bearing and joint compression techniques, stretching exercises, motor control activities, positioning strategies, and gait training with assistive devices constitute evidence-based approaches. Occupational therapy develops fine motor skills and activities of daily living competencies through hand function activities, adaptive equipment training, and sensory integration therapy (Bachmann-Gagescu et al., 2020).\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec17\" class=\"Section2\"\u003e\u003ch2\u003ePsychiatric Management\u003c/h2\u003e\u003cp\u003eBehavioral interventions including applied behavioral analysis, parent-child interaction therapy, adapted cognitive-behavioral therapy, structured routines with visual supports, and positive behavioral support plans constitute first-line approaches [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]. Psychopharmacological treatment follows standard psychiatric guidelines without JS-specific protocols: SSRIs treat depression and anxiety, mood stabilizers address affective dysregulation, antipsychotics (used cautiously) manage psychotic symptoms or severe aggression, and stimulants target ADHD symptoms when appropriate [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eCritical principles include medical optimization before psychiatric treatment (pain and illness exacerbate behavioral issues), start-low-go-slow approaches given neurological vulnerability, monitoring for side effects particularly sedation and extrapyramidal symptoms, and regular medication reviews [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e].\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec18\" class=\"Section2\"\u003e\u003ch2\u003eSystematic Surveillance\u003c/h2\u003e\u003cp\u003eAnnual monitoring includes ophthalmologic examination with electroretinography screening for retinal dystrophy, renal surveillance (blood pressure, serum electrolytes, creatinine, urinalysis), hepatic monitoring (liver enzymes, platelet counts for portal hypertension indicators), sleep-disordered breathing assessment, and scoliosis evaluation [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e, \u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e, \u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e].\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec19\" class=\"Section2\"\u003e\u003ch2\u003eRegional Implications and Healthcare System Considerations\u003c/h2\u003e\u003cp\u003eThe UAE's exceptional JS prevalence of 1:5,000 births necessitates regional healthcare system adaptations [\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e]. Comprehensive molecular characterization identifies CEP290 as the predominant causative gene in the Arabian Gulf, with the p.G1890* variant representing a potential founder mutation [\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e]. Pre-marital genetic counselling and carrier screening for founder mutations could substantially reduce disease burden in high-prevalence populations, though implementation faces cultural and logistical barriers.\u003c/p\u003e\u003cp\u003eSpecialized centers catering to the needs of individuals with JS and similar conditions remain needed in the UAE, as such cases often leave families shouldering care burdens without adequate institutional support. Introducing comprehensive care models and accessible support systems\u0026mdash;including respite care services, support groups (\u003cem\u003eJoubert Syndrome \u0026amp; Related Disorders Foundation\u003c/em\u003e), mental health support for family members, and care coordination assistance\u0026mdash;could significantly improve outcomes [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e].\u003c/p\u003e\u003cp\u003eWhile implementation faces cultural and logistical barriers, establishing accessible genetic testing services and culturally sensitive counselling protocols represents a critical public health priority. Integration of JS screening into existing pre-marital screening programs\u0026mdash;which currently test for conditions like thalassemia and sickle cell disease\u0026mdash;would provide a pragmatic pathway for reducing the incidence of this debilitating condition while respecting cultural considerations around consanguineous marriage.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec20\" class=\"Section2\"\u003e\u003ch2\u003eComparative Analysis and Prognostic Factors\u003c/h2\u003e\u003cp\u003eComparing this case with global reports, the absence of severe renal or hepatic involvement proves notable and prognostically favourable. The patient's relatively stable health status allows focus on enhancing socio-adaptive skills and independence rather than managing progressive organ failure. However, her limited numeracy and literacy, combined with the need for continuous supervision, highlight persistent challenges in fostering autonomy despite favourable medical status.\u003c/p\u003e\u003cp\u003eNeuroimaging severity predicts neurodevelopmental outcomes more reliably than genotype [\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e]. Greater vermis hypoplasia correlates with worse cognitive and motor function. Gene-specific patterns show CEP290 mutations often associating with severe global developmental impairment, particularly when retinal disease causes congenital blindness, while other genes show variable penetrance [\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e]. The degree of cerebellar vermis hypoplasia on this patient's imaging would predict her cognitive trajectory more accurately than genetic testing alone.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec21\" class=\"Section2\"\u003e\u003ch2\u003eFuture Research Directions\u003c/h2\u003e\u003cp\u003eFurther research priorities include prospective longitudinal studies of psychiatric manifestations across the lifespan, controlled trials of cognitive rehabilitation interventions, investigation of gene-specific psychiatric phenotypes, development of JS-specific quality-of-life measures incorporating family perspectives, and evaluation of structured family support programs' efficacy in reducing caregiver burden and optimizing patient outcomes.\u003c/p\u003e\u003c/div\u003e"},{"header":"Conclusion","content":"\u003cp\u003eThis case represents the first comprehensive neuropsychiatric evaluation of an adult with Joubert syndrome in the UAE, highlighting the critical importance of psychiatric integration within multidisciplinary care. The patient's favourable outcome at age 28 underscores that family support emerges as the most powerful protective factor against psychiatric decompensation\u0026mdash;with caregiver burden depending more on coping skills than illness severity. The case demonstrates that adults with JS and mild-to-moderate intellectual disability can achieve stable psychiatric health and meaningful quality of life when provided with appropriate multidisciplinary support and engaged family care. Adult outcomes remain highly variable, necessitating individualized rather than protocol-driven interventions. Further research should focus on longitudinal psychiatric outcomes and structured family support interventions. Regional awareness, genetic counselling initiatives, and comprehensive support systems remain imperative to optimize outcomes for individuals with JS in the UAE and broader Middle Eastern region.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eEthical approval was not required for this case report, as it involves a single case description without experimental interventions. This case report adhered to ethical principles, ensuring patient confidentiality by anonymizing identifying information and obtaining institutional approval where required. Its primary aim is to contribute to clinical knowledge and enhance patient care without compromising the dignity or rights of the individual involved. Informed consent for publication was obtained from all participants and their families.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eConsent for publication was obtained by all participants in this study.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and material\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eData sharing is not applicable to this article as no datasets were generated or analysed during the current study.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare that they have no competing interests\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors' contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eJ.S.A.J.A.: Acquisition of clinical data, analysis and interpretation of clinical information, and drafting the initial manuscript. S.A.B.: Substantially contributed to drafting the initial manuscript, critically revising the manuscript for important intellectual content, and assisted with interpretation and synthesis of clinical information. M.D.T.: Provided substantial contributions to the conception and design of the manuscript, analysis and interpretation of clinical information, critically revised the manuscript for important intellectual content, and provided supervision throughout manuscript preparation. All authors provided final approval of the version submitted for publication and have agreed to be accountable for all aspects of the work, ensuring questions related to the accuracy or integrity of any part of the work are appropriately investigated, resolved, and documented in the literature.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgments\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eJoubert M, Eisenring J-J, Preston J, Andermann F. Familial agenesis of the cerebellar vermis. Neurology [Internet]. Wolters Kluwer; 1969 [cited 2025 Oct 6];19:813\u0026ndash;813. https://doi.org/10.1212/WNL.19.9.813\u003c/li\u003e\n\u003cli\u003eMaria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, et al. Molar Tooth Sign in Joubert Syndrome: Clinical, Radiologic, and Pathologic Significance. J Child Neurol [Internet]. 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Am J Med Genet C Semin Med Genet [Internet]. 2022 [cited 2025 Oct 6];190:72\u0026ndash;88. https://doi.org/10.1002/ajmg.c.31963\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"middle-east-current-psychiatry","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"mecp","sideBox":"Learn more about [Middle East Current Psychiatry](http://mecp.springeropen.com)","snPcode":"43045","submissionUrl":"https://submission.nature.com/new-submission/43045/3","title":"Middle East Current Psychiatry","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Open","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Joubert syndrome, intellectual disability, molar tooth sign, United Arab Emirates, ciliopathy, cerebellar cognitive affective syndrome, neurodevelopmental disorders","lastPublishedDoi":"10.21203/rs.3.rs-8036813/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-8036813/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eJoubert syndrome represents a rare autosomal recessive ciliopathy affecting approximately 1 in 80,000 to 100,000 live births worldwide, though prevalence reaches 1 in 5,000 births in the United Arab Emirates due to high consanguinity rates. The syndrome manifests through a constellation of neurological and systemic abnormalities, with cerebellar vermis agenesis producing the pathognomonic \"molar tooth sign\" on magnetic resonance imaging of the midbrain. We present a 28-year-old female with Joubert syndrome and comorbid mild intellectual disability (Full-Scale IQ 58), representing the first documented case with comprehensive neuropsychological assessment and intellectual disability evaluation in the United Arab Emirates. This report examines the patient's neurodevelopmental trajectory, cognitive profile, adaptive functioning, and management challenges within a psychiatry-focused framework. The case underscores the critical importance of multidisciplinary psychiatric and psychosocial support in addressing the complex neurobehavioral needs of adults with Joubert syndrome.\u003c/p\u003e","manuscriptTitle":"Joubert Syndrome with Intellectual Disability: The First Documented Case from the United Arab Emirates","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-11-22 14:41:51","doi":"10.21203/rs.3.rs-8036813/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2025-11-23T15:57:19+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-11-21T18:21:29+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-11-21T11:13:43+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"214310933411462273680317333232198029924","date":"2025-11-11T14:38:09+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"196973754274943940552227743213985995725","date":"2025-11-11T11:56:39+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-11-11T11:52:45+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-11-11T08:06:36+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-11-11T08:04:10+00:00","index":"","fulltext":""},{"type":"submitted","content":"Middle East Current Psychiatry","date":"2025-11-05T09:31:28+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"middle-east-current-psychiatry","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"mecp","sideBox":"Learn more about [Middle East Current Psychiatry](http://mecp.springeropen.com)","snPcode":"43045","submissionUrl":"https://submission.nature.com/new-submission/43045/3","title":"Middle East Current Psychiatry","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Open","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"eaaffd16-9254-4c40-9aed-83c0534edf21","owner":[],"postedDate":"November 22nd, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[],"tags":[],"updatedAt":"2026-01-26T16:09:54+00:00","versionOfRecord":{"articleIdentity":"rs-8036813","link":"https://doi.org/10.1186/s43045-026-00616-3","journal":{"identity":"middle-east-current-psychiatry","isVorOnly":false,"title":"Middle East Current Psychiatry"},"publishedOn":"2026-01-21 15:57:51","publishedOnDateReadable":"January 21st, 2026"},"versionCreatedAt":"2025-11-22 14:41:51","video":"","vorDoi":"10.1186/s43045-026-00616-3","vorDoiUrl":"https://doi.org/10.1186/s43045-026-00616-3","workflowStages":[]},"version":"v1","identity":"rs-8036813","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-8036813","identity":"rs-8036813","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}