Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

Down syndrome (DS) is a genetic neurodevelopmental disorder. In individuals with DS, a multidisciplinary approach to care is required to prevent multiple medical complications. The aim of this study was to describe the rehabilitation, medical care, and educational and social support provided to school-aged French DS patients with varying neuropsychological profiles.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with a characteristic behavioural phenotype. A multidisciplinary approach to care is required to prevent multiple medical complications in individuals affected by PWS. The aim of this study was to describe the rehabilitation, medical care, educational and social support provided to school-aged French PWS patients with varying neuropsychological profiles.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain.

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.

Learning disabilities (LDs) are a clinically and genetically heterogeneous group of diseases. Array-CGH and high-throughput sequencing have dramatically expanded the number of genes implicated in isolated intellectual disabilities and LDs, highlighting the implication of neuron-specific post-mitotic transcription factors and synaptic proteins as candidate genes. We report a unique family diagnosed with autosomal dominant learning disability and a 6p21 microdeletion segregating in three patients.

Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation.

Background/aims: CAMTA1 mutations have recently been reported in families with intellectual disability and/or non-progressive congenital ataxias. The objective of this study was to describe the neuropsychological and neuroimaging phenotype of CAMTA1 mutation.

Methods: We performed neuropsychological examinations, MRI and FDG-PET imaging in three patients with autosomal dominant mild intellectual disabilities and ataxia induced by a CAMTA1 intragenic deletion at 1p36.

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

Speech sound disorders are heterogeneous conditions, and sporadic and familial cases have been described. However, monogenic inheritance explains only a small proportion of such disorders, in particular in cases with childhood apraxia of speech (CAS). Deletions of <5 Mb involving the 12p13.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

Background: Non-progressive congenital ataxias (NPCA) with or without intellectual disability (ID) are clinically and genetically heterogeneous conditions. As a consequence, the identification of the genes responsible for these phenotypes remained limited.

Objective: Identification of a new gene responsible for NPCA and ID.

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene.

Brain injured patients versus multiple trauma patients: some neurobehavioral and psychopathological aspects.

Background: The study aims to describe the neurobehavioral and psychopathological disorders in road crash victims with cerebral lesions compared with multiple trauma sufferers with no brain damage.

Methods: This study compares the neuropsychological and psychopathological developments of two groups of road crash victims (25 severe brain injuries (SBI) and 25 multiple traumas (MULT)) on the basis of the Neurobehavioral Scale, the SCL 90-R and the State/Trait Anxiety Scale.

Results: On the basis of the Neurobehavioral Scale, it was clear that the SBI patients suffered from significantly more disorders of type factor 1 (self-appraisal and flexible thinking), factor II (withdrawal), factor III (mood swings, irritability, disinhibition, excitement), factor IV (attention, slower motor responses, and mental fatigue), factor V (articulatory problems, problems of oral expression, and oral comprehension) and nonfactored disorders (exaggerated somatic concerns).