Ambulatory pediatricians: how to bridge the gaps in diagnosis and care coordination for neurodevelopmental disorders in France.

Introduction And Aims: The organization of healthcare pathways for neurodevelopmental disorders (NDD) relies on different levels of expertise depending on the complexity of these disorders. NDDs affect between 8% and 15% of children. Historically, national recommendations and healthcare planning measures were initially devoted to autism spectrum disorders and were gradually extended to Attention deficit hyperactivity disorder (ADHD) and specific learning and development disorders.

Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.

We report here two new familial cases of associated del15q11 and del7p22, with the latter underlining the clinical variability of this deletion. Two siblings patients presented a similar familial imbalanced translocation, originating from a balanced maternal translocation, with deletions of 7p22 and of 15q11 [arr[GRCh37] 7p22.3-p22.

Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.

Background: Metabolic and inflammatory conditions may lead to neurological disorders. Neuromyelitis optica spectrum disorders (NMOSDs) refer to a rare group of demyelinating diseases of the central nervous system which essentially involve the optic nerves and spinal cord.

Methods: We report a case of biotinidase deficiency (BD) initially misdiagnosed as NMOSD in a pediatric patient.

Unusual association of myasthenia gravis and ulcerative colitis in a 14-year-old boy.

Ulcerative colitis (UC) is a chronic inflammatory condition. Its incidence is 0.8 per 100,000 children per year and median age at diagnosis is 14.