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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

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.

We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens.

This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.

To investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users.

The positive association between caesarean section (CS) and autism spectrum disorder (ASD) may be attributed to preterm delivery.

Preterm infants are at a higher risk of hospitalisation following discharge from the hospital after birth.