Down Syndrome – A Neurodevelopmental Perspective

Background: Down syndrome(DS) is the genetic leading cause of intellectual disability. Its worldwide incidence is 1:700-800 pregnancies, with 10000-12000 estimated cases in Portugal. The main characteristics include physical features, specific medical conditions and neurodevelopmental disorders.

Objective and Methods: Retrospective and descriptive study, with the aim of analyzing patients with DS in a Neurodevelopment Unit of a Level III Hospital in 31/01/2019.

Results: 29 patients with DS were included, 3(10,3%) with prenatal diagnosis; median maternal age of 29 years; 18(62,1%) male gender, between 1-18 years-old (mean and median 7 years). The first neurodevelopment consultation occurred between 1 month-14 years old.

21(72,4%) patients had cardiopathy, 17(58,6%) endocrine, 16 (55,2%) respiratory, 7(24,1%) gastrointestinal, 2(6,9%) neurologic and 2(6,9%) haematological disorders.

Regarding neurodevelopmental assessment, all patients had communication disorders, 5(17,2%) presenting Attention Deficit Hyperactivity Disorder(ADHD) under methylphenidate and 1(3,4%) Autism Spectrum Disorder(ASD). Concerning interventions applied, 28(96,6%) attended speech therapy, 25(86,9%) occupational therapy and 9(31,0%) physiotherapy. The adopted strategies were based on the learn to read to learn to talk program, phonomimic method (Teles P, Portugal) and Dolman Method in 2 patients each and Makaton method in 1 patient. In the remaining the intervention method was not specified. 18 patients(62,1%) were schoolers (median 8,5 years), benefitting from inclusive education.Conclusion: This review presents a holistic understanding of DS. In our sample the referral to Neurodevelopmental consultation was late, when it should occur precociously with the remaining specialties. Diagnosing neurodevelopmental disorders in DS patients is challenging, since their learning disabilities, maturity delay and the syndrome itself. Therefore, an ASD diagnosis is often late, which worsens the outcome. Besides, most demonstrate attention deficit, restlessness and impulsivity, with ADHD in only 17,2% of our sample. The prognosis is influenced by the onset, type and frequency of the intervention. The ideal method should be multi-modal, flexible and focused on the subject, family and community.