BACKGROUND Although several determinants of global developmental delay (GDD) have been recognized, a significant number of children remain without definitive etiologic diagnosis. The objective of this study was to assess the effect of various prenatal and perinatal factors on the severity and outcome of developmental delay without definitive etiologic yield. METHODS From March 2008 to Februar...

Studies in rodents and nonhuman primates indicate that maternal stress during pregnancy can influence the developing fetus, resulting in delay of motor and cognitive development and impaired adaptation to stressful situations. These effects may be mediated by the hypothalamic-pituitary-adrenal (HPA) axis. We examined whether stress during pregnancy predicted developmental outcome of human infan...

BACKGROUND The 22q13 deletion syndrome (Phelan-McDermid syndrome) is characterised by a global developmental delay, absent or delayed speech, generalised hypotonia, autistic behaviour and characteristic phenotypic features. Intranasal insulin has been shown to improve declarative memory in healthy adult subjects and in patients with Alzheimer disease. AIMS To assess if intranasal insulin is a...

The chromosome 22q11.2 region has long been implicated in genomic diseases. Some genomic regions exhibit numerous low copy repeats with high identity in which they provide increased genomic instability and mediate deletions and duplications in many disorders. DiGeorge Syndrome is the most common deletion syndrome and reciprocal duplications could be occurring in half of the frequency of microde...

OBJECTIVE To examine the decisions of pediatric primary care physicians about their diagnostic evaluation for a child with suspected global developmental delay (GDD). STUDY DESIGN A survey was mailed to a sample of pediatricians (n = 600) and family physicians (n = 600) randomly selected from the American Medical Association Physician Masterfile. The survey contained a clinical vignette descr...

Mothers experiencing psychological distress in the postpartum period may have difficulties parenting their children. Inconsistent and unresponsive parenting may increase the risk of later emotional and behavioural problems in children. The purpose of this study was to identify how maternal psychological characteristics cluster at eight weeks postpartum, and whether these clusters were associate...

We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of the 5p14 deletion was determined using fluorescence in situ hybridisation (FISH). The deletion in this present family is smaller than a deletion pre...

Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absen...

Background Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Patients with JS often face multiple cognitive challenges, but the neuropsychological profile of this condit...

OBJECTIVE Little is known about the mental health outcomes of young children who experience developmental delay. The objective of this study was to assess whether delay in attaining developmental milestones was related to depressive and anxious symptoms in adolescence. METHOD The sample included 3508 Canadian children who participated in a nationally representative prospective cohort study. T...