Children with Down Syndrome (DS), and Autism Spectrum Disorder (ASD): Difficulties of Screening and Management of This Dual Diagnosis about 3 Cases

Abstract

Down syndrome and autism spectrum disorder can be combined at the child attained; this dual diagnosis is stressful for the parents and is often overlooked by the health and education professionals of these patients. Through three observations collected at the consultation of dysmorphology of the Children’s Hospital of Rabat (CHR), this article is illustrated with the details of this association, the clarification of the data of this double diagnosis and the recommendations of good practices for the screening and early management of ASD in this population of children with special needs. The 1 st case: A boy, born on 02/06/2014, unique of his family, is followed for DS. The diagnosis of DS was made at birth and confirmed by the karyotype; para-clinical assessment revealed congenital hypothyroidism (CH) treated with thyroid hormones and without identification of other congenital anomalies; the 2 nd case: A boy, the elder of a sibling of 4, was born on 22/12/2010, the diagnosis of DS was retained from birth, the balance did not objectify congenital pathology; the 3 rd case: A girl was born on 03/12/2009, consanguineous relative, hypotonic, eupneic, eutrophic; a mal-formative assessment on a trisomy 47, XX, +21 karyotype was realized. Diagnosis with PEP3 and CARS shows severe autistic spectrum disorder for all three patients. In the light of these three observations and of the medical literature, the authors stress the importance of screening for precursor signs in the first year of life for early stimulation by parents and neuropsycho-educational rehabilitation, in order to ensure adequate better development of brain plasticity and thus reduce parental stress and complications related to this dual diagnosis.