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Showing results for "Neuromuscular disorders "

Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure

Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Quest…

Randomised Controlled Trial of a Therapeutic Playgroup for Children with Developmental Delays

A single-blind randomised control trial investigated the effectiveness of the Learn, Engage and Play (LEaP) playgroup. Seventy-one children with deve…

Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndrome

People with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the ge…

Feasibility of upper airway collapsibility measurements in anesthetized children

Patients with a propensity for upper airway obstruction, including those with obstructive sleep apnea (OSA), are vulnerable in the perioperative peri…

Effect of Preemptive Intervention on Developmental Outcomes Among Infants Showing Early Signs of Autism: A Randomized Clinical Trial of Outcomes to Diagnosis

Intervention for individuals with autism spectrum disorder (ASD) typically commences after diagnosis. No trial of an intervention administered to inf…

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous ma…

Erdosteine in children and adults with bronchiectasis (BETTER trial): study protocol for a multicentre, double-blind, randomised controlled trial

Bronchiectasis is a worldwide chronic lung disorder where exacerbations are common. It affects people of all ages, but especially Indigenous populati…

Effect of methylphenidate exposure on glutamate and glutamate-related metabolites in patients with ADHD: a systematic review

Dysfunctional glutamatergic neurotransmission has been implicated in the underlying pathogenesis of Attention Deficit Hyperactivity Disorder (ADHD).…

Examining Effectiveness and Predictors of Treatment Response of Pivotal Response Treatment in Autism: An Umbrella Review and a Meta-Analysis

The current study aimed to provide a comprehensive appraisal of the current evidence on the effectiveness of Pivotal Response Training (PRT) for indi…

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations…