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1.
Cerebellum ; 23(2): 579-588, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37351729

RESUMEN

The neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressive cerebellar ataxia characterized by the so-called molar tooth sign. The few studies on this topic reported inconsistent results about intellectual functioning and specific neuropsychological impairments. The aim of this research is to examine the neuropsychological profile of JS compared to other congenital cerebellar malformations (CM), considering individual variability of intellectual quotient (IQ) in the two groups. Fourteen patients with JS and 15 patients with CM aged 6-25 years were tested through a comprehensive, standardized neuropsychological battery. Their scores in the neuropsychological domains were inspected through descriptive analysis and compared by mean of MANOVA and ANOVA models, then replicated inserting IQ as covariate. The two groups showed a largely overlapping neuropsychological profile, consistent with CCAS. However, the JS group showed worse performance in visual-spatial memory compared to CM patients, although this difference was mitigated when considering IQ. These findings highlight a divergence between JS and other CM in visual-spatial memory, which might suggest a critical role of the cerebellum in recalling task-relevant memories and might inform rehabilitative interventions.


Asunto(s)
Anomalías Múltiples , Enfermedades Cerebelosas , Cerebelo/anomalías , Anomalías del Ojo , Enfermedades Renales Quísticas , Retina/anomalías , Humanos , Anomalías Múltiples/psicología , Enfermedades Renales Quísticas/genética , Enfermedades Renales Quísticas/psicología , Anomalías del Ojo/psicología
2.
Disabil Rehabil ; 44(18): 4966-4973, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-34010585

RESUMEN

BACKGROUND: Joubert Syndrome (JS) is a rare inherited neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation (i.e. the molar tooth sign) and variable organ involvement. The aim of the present study was to describe functional limitations and disabilities in a large sample of adult patients with a diagnosis of JS. METHODS: We administered the International Classification of Functioning (ICF) checklist to thirty-six adult Italian patients with JS or their caregivers through telephone calls. RESULTS: None-to-mild impairment was documented for basic cognitive and mental functions, whereas severe deficit emerged for higher-order skills and language. A mismatch between individuals' capacity for daily activity and social participation and the actual performance in these fields emerged, suggesting that adults with JS may greatly benefit from external support from the caring environment. Indeed, specific facilitators were highlighted, including communication technologies as well as family members, healthcare professionals and peers support. Mild-to-severe barriers have been identified by adult patients with JS in the domains of services, systems and policies. CONCLUSIONS: These findings highlight challenges and barriers for adults with JS in areas of daily functioning that may be improved by investing in rehabilitation care models that embed social support programs and policies into clinical interventions.IMPLICATIONS FOR REHABILITATIONChildren with Joubert Syndrome, a child-onset rare inherited neurodevelopmental condition, are growing up and becoming adults; a life course approach in rehabilitation is needed;There is a substantial lack of information on the long-term adaptive daily functioning of children with a diagnosis of Joubert Syndrome;In this paper, the International Classification of Functioning (ICF) was applied to assess the daily functioning in people with JS;Severe deficits emerged for high-order skills and language, whereas the use of communication technologies and the engagement of family members were highlighted as key facilitators;These findings highlight the need for a change of paradigm in the care model of subjects with JS, with the embedding of social support in rehabilitation programs.


Asunto(s)
Anomalías Múltiples , Anomalías del Ojo , Enfermedades Renales Quísticas , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/psicología , Adulto , Cerebelo/anomalías , Evaluación de la Discapacidad , Anomalías del Ojo/psicología , Humanos , Clasificación Internacional del Funcionamiento, de la Discapacidad y de la Salud , Enfermedades Renales Quísticas/psicología , Retina/anomalías
3.
J Neonatal Perinatal Med ; 13(4): 587-591, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32651337

RESUMEN

Joubert syndrome is a rare neurological manifestation usually present in late infancy or early childhood with characteristic episodes of abnormal breathing pattern along with the neurological and other systemic involvement.We report a case of confirmed Joubert syndrome present in the immediate neonatal period with isolated spells of oxygen desaturations not accompanied by the classically described breathing pattern and absent neurological symptoms causing delay in the diagnosis. Isolated oxygen desaturation episodes could be a presenting manifestation of Joubert syndrome in a neonatal period.


Asunto(s)
Anomalías Múltiples , Encéfalo/diagnóstico por imagen , Cerebelo/anomalías , Anomalías del Ojo , Hipoxia/diagnóstico , Enfermedades Renales Quísticas , Retina/anomalías , Taquipnea/diagnóstico , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/fisiopatología , Anomalías Múltiples/psicología , Análisis de Varianza , Cerebelo/fisiopatología , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/fisiopatología , Discapacidades del Desarrollo/psicología , Diagnóstico Diferencial , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/fisiopatología , Anomalías del Ojo/psicología , Medidas del Movimiento Ocular , Humanos , Recién Nacido , Enfermedades Renales Quísticas/diagnóstico , Enfermedades Renales Quísticas/fisiopatología , Enfermedades Renales Quísticas/psicología , Masculino , Examen Neurológico/métodos , Pronóstico , Retina/fisiopatología , Índice de Severidad de la Enfermedad , Evaluación de Síntomas/métodos
4.
J Med Genet ; 54(8): 521-529, 2017 08.
Artículo en Inglés | MEDLINE | ID: mdl-28087721

RESUMEN

BACKGROUND: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function. METHODS: Brain MRI of 110 patients with Joubert syndrome was included in this study. A comprehensive evaluation of brain MRI studies for infratentorial and supratentorial morphological abnormalities was performed. Genetic cause was identified by whole-exome sequencing, and cognitive functions were assessed with age-appropriate neurocognitive tests in a subset of patients. RESULTS: The cerebellar hemispheres were enlarged in 18% of the patients, mimicking macrocerebellum. The posterior fossa was enlarged in 42% of the patients, resembling Dandy-Walker malformation. Abnormalities of the brainstem, such as protuberance at the ventral contour of the midbrain, were present in 66% of the patients. Abnormalities of the supratentorial brain were present in approximately one-third of the patients, most commonly malrotation of the hippocampi. Mild ventriculomegaly, which typically did not require shunting, was present in 23% of the patients. No correlation between neuroimaging findings and molecular genetic cause was apparent. A novel predictor of outcome was identified; the more severe the degree of vermis hypoplasia, the worse the neurodevelopmental outcome was. CONCLUSIONS: The spectrum of neuroimaging findings in Joubert syndrome is wide. Neuroimaging does not predict the genetic cause, but may predict the neurodevelopmental outcome. A high degree of vermis hypoplasia correlates with worse neurodevelopmental outcome. This finding is important for prognostic counselling in Joubert syndrome.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/psicología , Cerebelo/anomalías , Cerebelo/diagnóstico por imagen , Cognición , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/psicología , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales Quísticas/psicología , Imagen por Resonancia Magnética , Retina/anomalías , Anomalías Múltiples/genética , Niño , Preescolar , Estudios de Cohortes , Anomalías del Ojo/genética , Femenino , Humanos , Enfermedades Renales Quísticas/genética , Masculino , Neuroimagen , Pronóstico , Retina/diagnóstico por imagen , Secuenciación del Exoma
5.
Am J Med Genet A ; 170(12): 3115-3124, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27530364

RESUMEN

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive cerebellar and brainstem malformation recognizable on brain imaging, the so-called molar tooth sign. The full spectrum of cognitive and behavioral phenotypes typical of JS is still far from being elucidated. The aim of this multicentric study was to define the clinical phenotype and neurobehavioral features of a large cohort of subjects with a neuroradiologically confirmed diagnosis of JS. Fifty-four patients aged 10 months to 29 years were enrolled. Each patient underwent a neurological evaluation as well as psychiatric and neuropsychological assessments. Global cognitive functioning was remarkably variable with Full IQ/General Quotient ranging from 32 to 129. Communication skills appeared relatively preserved with respect to both Daily Living and Socialization abilities. The motor domain was the area of greatest vulnerability, with a negative impact on personal care, social, and academic skills. Most children did not show maladaptive behaviors consistent with a psychiatric diagnosis but approximately 40% of them presented emotional and behavioral problems. We conclude that intellectual disability remains a hallmark but cannot be considered a mandatory diagnostic criterion of JS. Despite the high variability in the phenotypic spectrum and the extent of multiorgan involvement, nearly one quarter of JS patients had a favorable long-term outcome with borderline cognitive deficit or even normal cognition. Most of JS population also showed relatively preserved communication skills and overall discrete behavioral functioning in everyday life, independently from the presence and/or level of intellectual disability. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/fisiopatología , Cerebelo/anomalías , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/fisiopatología , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/fisiopatología , Enfermedades Renales Quísticas/diagnóstico , Enfermedades Renales Quísticas/fisiopatología , Retina/anomalías , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/psicología , Adolescente , Adulto , Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Cerebelo/diagnóstico por imagen , Cerebelo/fisiopatología , Niño , Preescolar , Cognición/fisiología , Emociones/fisiología , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/psicología , Femenino , Humanos , Lactante , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/psicología , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales Quísticas/psicología , Imagen por Resonancia Magnética , Masculino , Pruebas Neuropsicológicas , Fenotipo , Retina/diagnóstico por imagen , Retina/fisiopatología
6.
Res Dev Disabil ; 47: 375-84, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26489806

RESUMEN

We report the clinical and rehabilitative follow up of M, a female child carrying a compound heterozygous pathogenic mutations in the TCTN1 gene and affected by Joubert Syndrome (JS). JS is a congenital cerebellar ataxia characterized by "the molar tooth sign" on axial MRI, a pathognomonic neuroradiological malformation involving the cerebellum and brainstem. JS presents with high phenotypic/cognitive variability, and little is known about cognitive rehabilitation programs. We describe the therapeutic settings, intensive rehabilitation targets and outcome indexes in M's cognitive development. Using a single case evidence-based approach, we attempt to distinguish the effectiveness of the intervention from the overall developmental trend. We assume that an adequate amount of focused, goal directed treatment in a relative short period of time can be at least as effective as one provided in longer time, and much less interfering with the child's everyday life. We conclude by discussing specific issues in cognitive development and rehabilitation in JS and, more broadly, in cerebellar malformations.


Asunto(s)
Anomalías Múltiples/rehabilitación , Cerebelo/anomalías , Desarrollo Infantil , Cognición , Anomalías del Ojo/rehabilitación , Enfermedades Renales Quísticas/rehabilitación , Retina/anomalías , Anomalías Múltiples/fisiopatología , Anomalías Múltiples/psicología , Cerebelo/fisiopatología , Niño , Preescolar , Anomalías del Ojo/fisiopatología , Anomalías del Ojo/psicología , Femenino , Humanos , Lactante , Enfermedades Renales Quísticas/fisiopatología , Enfermedades Renales Quísticas/psicología , Fenotipo , Retina/fisiopatología
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