Herbert J. Cohen

Frequency of gastrointestinal symptoms in children with autistic spectrum disorders and association with family history of autoimmune disease

ABSTRACT. This is a cross-sectional study that compares lifetime prevalence of gastrointestinal (GI) symptoms in children with autistic spectrum disorders (ASDs) and children with typical development and with other developmental disabilities (DDs) and examines the association of GI symptoms with a family history of autoimmune disease. A structured interview was performed in 50 children with ASD and 2 control groups matched for age, sex, and ethnicity-50 with typical development and 50 with other DDs. Seventy-four percent were boys with a mean age of 7.6 years (SD, ±3.6). A history of GI symptoms was elicited in 70% of children with ASD compared with 28% of children with typical development (p <.001) and 42% of children with DD (p =.03). Abnormal stool pattern was more common in children with ASD (18%) than controls (typical development: 4%, p =.039; DD: 2%, p =.021). Food selectivity was also higher in children with ASD (60%) compared with those with typical development (22%, p =.001) and DD (36%, p =.023). Family history of autoimmune disease was reported in 38% of the ASD group and 34% of controls and was not associated with a differential rate of GI symptoms. In the multivariate analysis, autism (adjusted odds ratio (OR), 3.8; 95% confidence interval (CI), 1.7-11.2) and food selectivity (adjusted OR, 4.1; 95% CI, 1.8-9.1) were associated with GI symptoms. Children with ASD have a higher rate of GI symptoms than children with either typical development or other DDs. In this study, there was no association between a family history of autoimmune disease and GI symptoms in children with ASD.

DEVELOPMENTAL ABNORMALITIES IN INFANTS AND CHILDREN WITH ACQUIRED IMMUNE DEFICIENCY SYNDROME (AIDS) AND AIDS‐RELATED COMPLEX

Children with acquired immune deficiency syndrome (AIDS) display two types of clinical picture: (1) a fullblown AIDS characterized by the presence of opportunistic infections and/or Kaposis sarcoma and (2) a prodromal stage now identified as AIDS‐related complex (ARC). Neurological complications have been identified in infants and children with the disease. This paper discusses the developmental abnormalities in 16 pediatric patients, seven with AIDS and nine with ARC, ranging in age from six months to six years. In all cases, the mothers of these children either had ARC, AIDS and/or used intravenous drugs. Developmental histories showed delayed acquisition of milestones in most children following the diagnosis of AIDS or ARC, with delayed motor milestones consistently noted in both groups. Several children with AIDS actually lost milestones as their illness progressed; this has not occurred in the ARC group. Psychometric testing revealed more severe cognitive dysfunction in the group with AIDS. Involvement of the central nervous system was documented clinically, radiologically, and/or electrophysiologically in all patients with AIDS. In the ARC group the course of the illness has shown greater variability. Medical and social factors that may contribute to the developmental abnormalities are discussed.

Developmental changes in overflow in normal and aberrantly functioning children

Overflow involuntary movement in a resting extremity when the contralateral extremity is performing a voluntary movement was measured in normal and aberrantly functioning children. After 9 years of age, normal children showed a marked decrease in overflow movements. In contrast, subjects with evidence of CNS abnormalities have an increased amount of observed overflow and a significant delay in the capacity to inhibit such movements voluntarily. The excessive overflow noted in neurologically abnormal children is not wholly accounted for by mental subnormality, or by delayed neurological maturation, but appears to be an indication of a damaged brain.

Gastrointestinal Symptoms in Children with an Autism Spectrum Disorder and Language Regression

Few studies have compared gastrointestinal problems in children with an autism spectrum disorder with and without a history of language regression. A cross-sectional study was conducted with structured interviews in 100 children with autism spectrum disorder, using a gastrointestinal questionnaire and a familial autoimmune questionnaire. By parental report, children with language regression more frequently exhibited an abnormal stool pattern (40% vs 12%, P = 0.006) and had an increased family history of celiac disease or inflammatory bowel disease (24% vs 0%, P = 0.001) and of rheumatoid arthritis (30% vs 11%, P = 0.03). Among 35 children with a family history of autoimmune disease, an abnormal stool pattern was reported more frequently in those with language regression (78% vs 15%, P = 0.001) than in those without. An association was observed between children with language regression, a family history of autoimmune disease, and gastrointestinal symptoms. Additional studies are needed to examine a possible shared autoimmune process.

Developmental Abnormalities in Children with Acquired Immunodeficiency Syndrome (AIDS): A Follow-up Study

Developmental abnormalities in 16 pediatric patients with AIDS or AIDS-Related Complex (ARC) were previously described. Neurological deterioration was in evidence on follow-up in 9 of the children, 5 died since the original assessments were performed. Ten patients were reevaluated 14 months later by cognitive testing. Two showed greater progress than expected on the basis of earlier test results; 6 showed the expected level of developmental progress; and the remaining 2 showed regression in cognitive functioning. All patients who exhibited regression in their developmental course showed deterioration in their neurological examinations. Developmental progression was noted in some children who on follow-up serial examinations exhibited a clinically deteriorating neurological picture. Pediatric AIDS patients manifest variable neurodevelopmental courses. As a result, rehabilitative intervention services must be tailored to meet individual needs.

The Genetic Relationship of Progressive Muscular Dystrophy (Duchenne Type) and Mental Retardation

Two hundred and eleven patients with progressive muscular dystrophy (pmd) of the Duchenne type were identified in 135 separate families. The overall incidence of mental retardation in the 211 patients was 20.9 per cent. There was no evidence of a similar increase in the incidence of mental defect among non‐dystrophic siblings.

Characterization of cognitive functioning in a subgroup of children with congenital HIV infection

The cognitive status of 12 clinically stable children with congenital HIV infection, nine of whom were neurologically impaired, age three to nine years, was assessed using the Kaufman ABC test. Seven of the children had ARC; five were diagnosed as having AIDS. The same children were evaluated by standard neurologic examinations with Characterization of tone and fine motor functioning. Two were diagnosed as being mildly retarded; six were borderline; and four tested as being of average intelligence. Visual-spatial perceptual based functioning was found to be more impaired than were abstract reasoning and verbally mediated skills in six (50%) of the patients. This pattern of impaired information processing was found irrespective of overall cognitive status. On neurological and physiatric examination abnormal developmental histories were obtained, or poor fine motor coordination, abnormal tone and gait, and impaired rapidly alternating movements were found in 9 of the 12 subjects. These findings suggest selective impairment in distinct areas of neurologic and neuropsychological functioning during stable phases of HIV infection in a select group of children. These patterns appear to persist over time. They differ from the clustering of impaired skills seen in children of comparable socio-cultural backgrounds without HIV infection. Similarities in functioning are noted between this subgroup of children with AIDS and ARC and comparable groups with cerebral palsy.

EFFECTS OF CONGENITAL HIV INFECTION ON NEURODEVELOPMENTAL STATUS OF BABIES IN FOSTER CARE

High rates of neurological complications related to congenital HIV infection have been reported, but often it has been difficult to delineate those clinical impairments specifically related to viral infection of the developing nervous System. The present study attempted to hold causative environmental factors constant by comparing the neurodevelopmental and growth Status of two matched control groups of infants in foster care, one HIV seronegative and one seropositive. All were over the age of 15 months and had been born to seropositive mothers. The seropositive group showed significantly more neurological involvement than the seronegative group, and a different pattern of cognitive deficits. There were no significant differences in growth measures between the two groups. Babies born to HIV seropositive mothers were generally at high risk for developmental impairments.

Training and preparing physicians to care for mentally retarded and handicapped children

With the recent significant changes in the care of mentally retarded and handicapped children, the role of the physician has concomitantly changed. There is an increasing need to provide generic health care for affected children living in the community and counselling and guidance to the families. Medical trainees must, therefore, be furnished with both technical skills to diagnose and treat, as well as with an understanding of the philosophical basis for changing practices in the field. An approach to training used at our Center is described which includes specific goals and educational objectives for physicians-in-training including medical students, house officers (residents) and fellows. The training is based on an understanding of the skills, of the level of sophistication, and of the pressures felt as a result of competing priorities that the various trainees bring to their training experience. Based on the evaluation information available about the training format, which includes interdisciplinary team experiences, demonstration and observation sessions, didactic presentations and visits to a variety of programs, the approach to training has been proven to be successful in achieving its goals.

A History of the Children’s Evaluation and Rehabilitation Center (CERC) at the Albert Einstein College of Medicine, 1956-2008

The Children’s Evaluation and Rehabilitation Center (CERC) is the oldest continuously Einstein-operated clinical program. Its history has paralleled that of other achievements at Einstein, as well as changes in the service system, legislative mandates, and creation of programs for the developmentally disabled in both the Bronx and the United States. This article describes the growth and development of CERC, identifies several key faculty members and staff who have been major contributors to CERC’s operations and to related Einstein activities, describes its numerous accomplishments over the past 50 years, and indicates some of the future directions for its programs.