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The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways.

Neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder, and intellectual disability (ID), commonly emerge during early development and impact functioning across cognitive, social-emotional, communication, and sensorimotor domains.

Reduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months.

In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician.

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.

Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals

The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...

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

Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.