The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders in which peroxisome assembly is impaired, leading to multiple peroxisome enzyme deficiencies, complex developmental sequelae and progressive disabilities. Mammalian peroxisome assembly involves the protein products of 16 "PEX" genes;…

The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…

Spina bifida myelomeningocele (SBM) is a specific type of neural tube defect whereby the open neural tube at the level of the spinal cord alters brain development during early stages of gestation. Some structural anomalies are virtually unique to individuals with SBM, including a complex pattern of cerebellar dysplasia known as the Chiari II…

In the context of spina bifida, hydrocephalus is usually caused by crowding of the posterior fossa with obstruction to cerebrospinal fluid flow from the forth ventricle, and less often by malformation of the cerebral aqueduct. Enlargement of the cerebral ventricles causes gradual destruction of periventricular white matter axons. Motor, sensory,…

A cognitive phenotype is a product of both assets and deficits that specifies what individuals with spina bifida meningomyelocele (SBM) can and cannot do and why they can or cannot do it. In this article, we review the cognitive phenotype of SBM and describe the processing assets and deficits that cut within and across content domains, sensory…

The management of orthopedic problems in spina bifida has seen a dramatic change over the past 10 years. The negative effects of spasticity, poor balance, and the tethered cord syndrome on ambulatory function are better appreciated. There is less emphasis on the hip radiograph and more emphasis on the function of the knee and the prevention of…

Survival into adulthood for individuals with spina bifida has significantly improved over the last 40 years with the majority of patients now living as adults. Despite this growing population of adult patients who have increased medical needs compared to the general population, including spina bifida (SB)-specific care, age-related secondary…

The urologist plays an important role in the multidisciplinary team of physicians who provide care for patients with spina bifida. We review common strategies for managing the urinary tract in these patients. The primary objective in all phases of life is protecting kidney function by minimizing bladder hostility and establishing a good capacity,…

The neurosurgical goal when treating children with spina bifida (predominantly myelomeningocele) is to maintain stable neurological functioning throughout the patient's life time. Unfortunately, few long-term outcome studies are available to help direct the neurosurgical care of a child born with myelomeningocele and often treatment relies more…

X-linked intellectual disability (XLID) accounts for approximately 16% of males with intellectual disability (ID). This is, in part, related to the fact that males have a single X chromosome. Progress in the clinical and molecular characterization of XLID has outpaced progress in the delineation of ID due to genes on the other 22 chromosomes.…

The increasing survival of children and young people with congenital disabilities such as spina bifida (SB) provides a challenge to health care systems globally about how best to respond to the multitude of health, developmental, and psychosocial needs of those affected by this complex disorder across the lifespan, not just in childhood and…

The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public…

Quality of life (QOL) is an important concept for individuals with chronic health conditions. Measuring and supporting QOL in children, adolescents, and adults with spina bifida (SB) may be especially unique given the broad range of complex health and rehabilitative challenges they encounter. This article provides a research update on (a)…

The health care needs of children with spina bifida are complex. They need specialists, generalists, and an integrated system to deliver this complex care and to align and inform all the providers. Most research in spina bifida has been focused on narrow medical outcomes; it has been noncollaborative, based on small samples of convenience, with no…

Alcohol use among women of childbearing age is a leading, preventable cause of birth defects and developmental disabilities in the United States. Although most women reduce their alcohol use upon pregnancy recognition, some women report drinking during pregnancy and others may continue to drink prior to realizing they are pregnant. These findings…