Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.

Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders occurring among all ethnic and socioeconomic groups. Pathogenic variants in the neurite extension and migration factor (NEXMIF) gene (formerly named KIAA2022) on the X chromosome are responsible for ID, autistic behavior, epilepsy, or dysmorphic features in males. Most affected females described had a milder phenotype or were asymptomatic obligate carriers. We report here for the first time mother-to-son transmission of a novel NEXMIF truncating variant without X-inactivation skewing in the blood. Truncating gene variant leads to symptomatic mother to severely affected son transmission. Our findings emphasize that NEXMIF sequencing should be strongly considered in patients with unexplained autism spectrum disorder, ID, and epilepsy, irrespective of gender. Such testing could increase our knowledge of the pathogenicity of NEXMIF variants and improve genetic counseling.

[Adults with intellectual disability : actual concepts and clinical challenges]. / Le handicap intellectuel chez l'adulte : concepts actuels et défis dans l'approche clinique.

The condition of the adult with intellectual disability (AWID) includes the largely autonomous, integrated person but also the one in need of constant support, with grossly altered communication abilities, frequently affected by somatic and mental comorbidities and non-adapted behaviors. Their prevalence is about 1 % of the adult population. They should benefit from particular attention of health care professionals, including in mental health. However, their access to health care is often limited and their quality of life and life expectancy are diminished. Recent advances in the field of ID include modified diagnostic criteria, as well as individualized care in a multidisciplinary approach in partnership with relatives and professionals from the community/service providers. These approaches allow to better address special needs of AWID.

La condition de l'adulte porteur d'un diagnostic de handicap intellectuel (ADHI) va de la personne largement autonome et intégrée dans la communauté à celle nécessitant une surveillance constante, avec des difficultés de communication, des comorbidités somatiques et mentales et des comportements non adaptés. Leur prévalence est d'environ 1 % de la population adulte. Elles devraient bénéficier d'une attention particulière de la part des professionnels de la santé, y compris mentale. Cependant, l'accès aux soins et leur qualité sont souvent limités. L'espérance et la qualité de vie des ADHI sont diminuées. Des évolutions dans le domaine du handicap intellectuel concernent le diagnostic et les approches de soins individualisés et intégrés en partenariat avec les proches et le réseau. Elles permettent de mieux répondre aux spécificités de l'ADHI.