Dr. Victor M. Pedro
Department of Clinical Sciences University of Bridgeport, Bridgeport, Connecticut, U.S.A.
A case study is described of a 17-year-old right-handed Caucasian female diagnosed with microcephaly and complicated by defective brain development (mild to moderate mental retardation) with likely craniosynostosis. Familial history suggested microcephaly and the mother’s gestational diabetes was probably not causative. Female at age 14 months presented with relatively normal neurological scan, but by age 5 (during kindergarten screening) developmental delays associated with defective brain development became apparent. Family members observed frequent minor seizures, their onset signaled by excessive blinking episodes followed by disorientation. Subject continued to experience great difficulty in learning and retaining basic concepts. Observed performance indicators remained grossly deficit, with markers reaching a plateau before stagnating in the kindergarten to second grade (k-2) range for overall academic achievement. After eleven years of special education interventions with no significant improvement in any measurable area of function, a multimodal approach using techniques aimed at facilitating inter-hemispheric communication was provided. At completion of the Cortical Integrative Therapy program, a significant gain in verbal ability was independently observed and verified by testing; smaller gains in non-verbal and other diverse performance indicators were otherwise noted. Seizures still occurred, but less frequently.
KEY WORDS: microcephaly, Cortical Integrative Therapy, defective brain development, craniosynostosis
A description and not a specific diagnosis, microcephaly is a term for the condition of an abnormally small head. It can result from a number of different causes, the most common being abnormal brain growth — which is a cause rather than an effect of impaired skull growth (Dorman C., 1991). Researchers frequently characterize microcephaly as primary or secondary. Its primary form can exist when a smaller than normal brain and skull often results in some degree of mental retardation. The microcephalic brain is not only smaller, but also the cerebral cortex – the layers of nerve cells that cover the brain’s surface and are the seat of higher reasoning – is shrunken. (Travis J., 2002). Primary microcephaly usually suggests below normal skull and brain growth during pregnancy followed by relatively normal growth, size, and development during childhood and maturation. A more pervasive microcephaly that can present with similar manifestation is secondary microcephaly, a condition characterized by near normal or normal brain size noted at birth, but because of an unknown genetic predisposition (not known to be caused by a specific gene), the brain subsequently fails to grow normally. While secondary microcephaly often produces impaired intelligence and frequent seizures, these deficits are usually a consequence of an underlying brain disorder or environmental factors – most often chronic tobacco use during the gestational period (Mercuri et all, 2000) – or a combination of genetic and environmental factors. A common brain malformation caused by a genetic defect that results in a proliferation failure of neurons, craniosynostosis is the premature closure of one or more of the cranial sutures in a fetus or an infant. It can produce a chronic increase in intracranial pressure caused by tangential growth of the brain within an unyielding skull — invariably resulting in defective brain development and serious impairment of intelligence. A large percentage of children with microcephaly, perhaps as many as 40% (McIntyre 1997) develop craniosynostosis associated with their microcephaly. Mental retardation in microcephaly can range from mild to severe, with the entire spectrum of intelligence stunted to sub-normal or below normal functioning.