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...

EVIDENCE BASED GUIDELINES Investigation of global developmental delay

Developmental Delay and Its Effective Factors in Children Aged 4 to12 Months

Introduction: Over the past two decades, the incidence of cesarean section in most countries has increased.Developmental delay occurs when children do not reach their developmental milestones at the expected time. The main causes of developmental delay are often unknown. Investigation of the prevalence of developmental delay and its effective factors in children from 4 to 12 months old in Pakda...

Evidence Based Guidelines

The investigation of global developmental delay in preschool children varies between centres and between paediatricians. Following a literature search and review of the evidence base, guidelines were developed to assist in the assessment and management of such children presenting to secondary level services. Evidence supporting the use of genetic and biochemical investigations on a screening ba...

Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.

BACKGROUND Investigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limited knowledge of rare diseases and a poor understanding of the purpose or limitations of appropriate investigations have been some of the principal reasons for this difficulty. ...