Down syndrome

Down syndrome is associated with third chromosome 21, diagnosis is made by chromosome analysis (Roizen 2003)

• it is the most common cause of intellectual disability (Rosso et al, 2020)
  • wide range of functioning in all areas of development, IQ decreases in first decade of life, in adolescent years cognitive function plateaus.
  • cognitive domain of language production can be especially impaired. (Roizen 2003)
• treatment considerations may include vigilance for disorders that occur in greater frequency in the Down’s population: (Roizen 2003)
  • hypothyroidism
  • obstructive sleep apnea due to midfacial hypoplasia
  • seizure disorder (bimodal age of onset in early childhood and third decade of life)
  • leukemia
  • Celiac disease
• signs and symptoms of Alzheimer’s disease are apparent in 75% of Down syndrome patients over 60 years of age
  • possibly related to APP gene overexpression, which is located on chromosome 21 (Roizen 2003)

Down syndrome disintegrative disorder: subacute onset including autistic-like regression, language regression and mutism, mood lability, insomnia, social withdrawal and decreased participation in ADL’s, and/or catatonia (Rosso et al, 2020)

• Unknown etiology, considerations include stress / psychiatric disease or autoimmunity(higher rates of anti-TPO antibodies, though steroid treatment reveals no benefit) (Rosso et al, 2020)
• May or may not return to baseline functioning (Rosso et al, 2020
• Interventions have included SSRIs, antipsychotics, and cholinergic drugs (donepezil, rivastigmine) 70
  • If catatonia is present, trial of high dose benzodiazepines or ECT has been effective (Rosso et al, 2020)

References

Roizen, N. J. & Patterson, D. Down’s syndrome. Lancet Lond. Engl. 361, 1281–1289 (2003). https://pubmed.ncbi.nlm.nih.gov/12699967/

Rosso, M. et al. Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. Pediatrics 145, e20192939 (2020). https://pubmed.ncbi.nlm.nih.gov/32471843/