Prenatal counseling: Guidelines for the care of people with spina bifida.

As the diagnosis of Spina Bifida (SB) is often made prenatally, SB-specific prenatal counseling is needed. It is essential to provide information about medical care and lifelong impact of this diagnosis, treatment options available to women carrying fetuses affected, and resources that will assist in the care of individuals with SB. This article outlines the SB Prenatal Counseling Guidelines from the 2018 Spina Bifida Association's Fourth Edition of the Guidelines for the Care of People with Spina Bifida and acknowledges that further research in SB prenatal counseling is warranted.

Normal IQ is possible in Smith-Lemli-Opitz syndrome.

Children with Smith-Lemli-Opitz syndrome (SLOS) are typically reported to have moderate to severe intellectual disability. This study aims to determine whether normal cognitive function is possible in this population and to describe clinical, biochemical and molecular characteristics of children with SLOS and normal intelligent quotient (IQ). The study included children with SLOS who underwent cognitive testing in four centers.

The effectiveness of bowel and bladder interventions in children with spina bifida.

Aim: Using the World Health Organization International Classification of Functioning, Disability and Health (ICF), the aim of this study was to identify effective strategies for managing urinary and bowel complications resulting from spina bifida.

Method: Charts of 210 children between 4- and 13-years-old with spina bifida were reviewed to quantify medical interventions and continence status. Standardized quality of life (QOL) questionnaires were administered to a subset of participants; child and parent interviews were carried out to examine the experience of living with bowel and bladder incontinence.

Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.

Objective: To quantitatively evaluate feeding impairment in children with Smith-Lemli-Opitz syndrome (SLOS) and to correlate feeding impairment with clinical and biochemical indices of disease severity.

Study Design: The study subjects were 26 children with SLOS ranging in age from 0.4 to 19 years.

Mutations in γ adducin are associated with inherited cerebral palsy.

Objective: Cerebral palsy is estimated to affect nearly 1 in 500 children, and although prenatal and perinatal contributors have been well characterized, at least 20% of cases are believed to be inherited. Previous studies have identified mutations in the actin-capping protein KANK1 and the adaptor protein-4 complex in forms of inherited cerebral palsy, suggesting a role for components of the dynamic cytoskeleton in the genesis of the disease.

Methods: We studied a multiplex consanguineous Jordanian family by homozygosity mapping and exome sequencing, then used patient-derived fibroblasts to examine functional consequences of the mutation we identified in vitro.