CASE REPORT
E.F. is a 17-year-old right-handed female, born at 9 pounds, 14 ounces following a full term gestation complicated by the mother’s diabetes. Head size at birth was 29 centimeters, slightly below the normal of 33 centimeters. The mother suspected that E.F. would be born microcephalic because of the presence of a familial strain involving smaller than normal head size in, at least, two ancestral relatives and previously diagnosed microcephaly in E.F’s elder sister. While a prenatal ultrasound scan and a CT scan performed at two days of age appeared relatively normal, with no CT evidence of microcephaly (configuration of the cranial normal) in the latter scan, further testing revealed incipient microcephaly when the infant was 10 days of age. Although developmental delays were not immediately apparent, a comment alluding to forecast delays — small head/”slow learner” — appeared in E.F.’s medical record at that time. Because membranes were applied tight to the infant’s head and difficult to rupture, and because her fontanels “felt small” and were difficult to identify, a complicating diagnosis of craniosynostosis was considered likely. There was no suggestion of infection, destructive lesion, or further chromosomal abnormalities. E.F. matured in a multi-cultural and bilingual (Portuguese-English) home environment. When E.F. was nearly 14 months of age, a physician’s report re-confirmed familial microcephaly with an “autosomal recessive” condition described as causal. At this time, a neurological exam surprisingly determined E.F.’s functioning and development to be normal, although early intervention for prompt detection of developmental delays was recommended. E.F. became ambulatory at 12-13 months, but her speech was delayed until age 4. Toilet training was delayed until 4 years 10 months as chronic nocturnal enuresis was noted.
When E.F. was age 5, she underwent educational testing for admission into kindergarten (pre-school). At this time, a spectrum of delays associated with defective brain development (mild to moderate mental retardation) became evident. Documented with pronounced weaknesses in cognition, reasoning, and problem solving, E.F. proved significantly below the average for her age in global functioning. While acquired knowledge related to number concepts was E.F.’s strongest area (slow learner classification), further weaknesses in verbal areas (word knowledge, verbal fluency, long term memory, ability to reason) revealed moderate mental retardation. Other area scores (non-verbal problem solving, visual discrimination, perception of part/whole relationships, spatial organization, eye-hand coordination, auditory short-term memory) were closer to peer norms, but still demonstrated significant delays (mild retardation).
Observations and further testing of E.F. in a kindergarten special needs learning environment confirmed overall global cognitive and language delays although her bi-lingual use of language might have hindered independent evaluation of her condition. Like many bilingual children, she did not speak or write consistently in English or Portuguese, complicating her ability to communicate and interact.
Little changed as E.F. matured. Although her mental retardation was never classified as “severe” or “profound,” effects of defective brain development were always apparent. Frequent seizures, their onset signaled by excessive blinking, would result in disorientation and fatigue. She learned to communicate effectively (primarily in English), but only developed learning skills demonstrable at kindergarten to second grade (K-2) academic level and proved incapable of further advancement. Prior to age 8, certain skills incidental to academic performance and living at home did show improvement. These included maintaining eye contact, articulation, and volume of speech (speaking loud enough for listeners to comprehend what she was saying). Never mainstreamed (allowed to learn complex concepts with normal peers), her entire academic career was spent in a succession of special education academic environments. It was hoped that supportive small groups and structured multi-sensory language-based programs would best facilitate E.F.’s specialized needs. At age 11, E.F. was reported to be a “delightful child” with both receptive and expressive language delays and difficulty retrieving and retaining information. A school psychologist expressed comment about 11-year-old E.F. in the following manner: “Although she physically looks her age, her mannerisms, emotional presentation, and language communication are suggestive of a much younger child.”
A series of intelligence tests administered to E.F. at age 16 by a school psychologist (she was now attending high school in an “ungraded class”) conclusively confirmed previous testing and observations. The Slosson Intelligence Test was administered to E.F. and she scored in the moderately retarded range. Her strengths were in general knowledge and number concepts. Overall skills appeared stagnated at the five to five-and-a-half year level. On the Vineyard Adaptive Behavior Scale, strengths were noted in gross and fine motor skills and daily living skills. In daily living domestic skills, E.F. achieved a score at the 12-year level. (E.F. could perform household tasks with competence and independence, including cooking and planning simple meals.) A weaker area was written language. Here E.F. scored at the 7 year 5 month level. Finally, several Kaufman Tests of Educational Achievement were administered producing results exclusively in the mildly retarded range. For instance, E.F. could read at the first grade level and spell at the second grade level.