Microcephaly
Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at birth or it may develop in the first few years of life. It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. It is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes. Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol, became infected with a cytomegalovirus, rubella (German measles), or varicella (chicken pox) virus, was exposed to certain toxic chemicals, or had untreated phenylketonuria (PKU). Babies born with microcephaly will have a smaller than normal head that will fail to grow as they progress through infancy. Depending on the severity of the accompanying syndrome, children with microcephaly may have impaired cognitive development, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities. Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference.
Treatment
There is no treatment for microcephaly that can return a child’s head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.
Prognosis
Some children will only have mild disability. Others, especially if they are otherwise growing and developing normally, will have normal intelligence and continue to develop and meet regular age-appropriate milestones.
Research
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to microcephaly in its laboratories at the National Institutes of Health (NIH) and supports additional research through grants to major medical institutions across the country. A small group of researchers studying a rare neurometabolic syndrome (3-PGDH), which causes microcephaly, have successfully used amino acid replacement therapy to reduce and prevent seizures.
Organizations
The Arc of the United States
Promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.
1825 K Street, NW
Suite 1200
Washington, DC 20006
Info@thearc.org
http://www.thearc.org
Tel: Washington
Fax: 202-534-3731
Birth Defect Research for Children, Inc.
Non-profit organization that offers parents and expectant parents information about specific birth defects, their causes and treatments, support group referrals, and parent matching services. Provides information about environmental exposures that may be associated with birth defects. Sponsors the National Birth Defect Registry, a research project that collects data on birth defects and prenatal/lpreconceptual exposures of mothers and fathers.
976 Lake Baldwin Lane
Suite 104
Orlando, FL 32814
betty@birthdefects.org
http://www.birthdefects.org
Tel: Orlando
March of Dimes
Works to improve the health of babies by preventing birth defects and infant mortality through programs of research, community services, education, and advocacy.
1275 Mamaroneck Avenue
White Plains, NY 10605
askus@marchofdimes.com
http://www.marchofdimes.com
Tel: White Plains
Fax: 914-428-8203
National Dissemination Center for Children with Disabilities
U.S. Dept. of Education, Office of Special Education Programs
1825 Connecticut Avenue NW, Suite 700
Washington, DC 20009
nichcy@aed.org
http://www.nichcy.org
Tel: Washington
Fax: 202-884-8441
Content Provided By
NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.
