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The positive association between caesarean section (CS) and autism spectrum disorder (ASD) may be attributed to preterm delivery.
People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals
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.
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.
The aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome.
We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens.
Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.
Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.
Clinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.