Evidence based case report: Assessing developmental delay

EVIDENCE BASED GUIDELINES Investigation of global developmental delay

4-Hydroxybutyric Aciduria as a Rare Presentation of Global Developmental Delay in Children: Case Report of Two Different Patients

Succinic semialdehyde dehydrogenase (SSADH) deficiency or 4-Hydroxybutyric Aciduria is an autosomal recessive inherited disorder of amma-aminobutyric acid (GABA) degradation. It is characterized by developmental delay, infantile-onset hypotonia, cognitive impairment language deficit, and ataxia. Epilepsy, aggression, Hyperkinetic behavior, hallucinations, and sleep disturbances have been descri...

Rubinstein Taybi Syndrome: Developmental Evaluation-a Case Report

Rubinstein Taybi syndrome is a rare genetic abnormality that includes such features as facial abnormalities, broad thumbs on the hands and feet, small stature, and developmental delay (including fine and gross motor, communication, problem solving, personal-social delays). This case report represents a 12 months old male baby, was referred for his Developmental Delay, and after investigations a...

Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?

BACKGROUND Parents of six children are facing a trial on charges of aggravated manslaughter in the care a 5 1/2 month old infant who died suddenly and neglect of their four older children for causing them to be malnourished by feeding them all an exclusively raw foods vegan diet. Both parents declined plea bargains and plan to defend themselves in court. CASE PRESENTATION The fifth child born...

Developmental Delay

Introduction Developmental delay is a problem not infrequently encountered 1%-3% of all children are globally developmentally delayed 16% of all children have learning difficulties, and other developmental and behavioral problems Only 20%-30% are detected prior to school entry Thus, routine screening is recommended as part of health maintenance visits Introduction Low-frequency, high-morbidity ...