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Biomedical subjects

Robin Steinberg-Epstein

Publications and source records attributed to Robin Steinberg-Epstein.

3 recordsLinked to original sources

Intervention for autistic spectrum disorders.

A comprehensive approach to the assessment of any child with autism must be matched specifically to each individual child and family. This premise holds for medical therapies and special education services as well as psychopharmacologic interventions. Behavioral, as opposed to pharmacologic, treatment is the hallmark of effective intervention for autism. Physicians involved in the care of children with autism need to become familiar with educational law and intervention recommendations. Goals should include improved functional verbal and nonverbal communication and social skills, increased engagement in developmentally appropriate activities, improved fine and gross motor skills, and the development of independent academic and organizations skills, as well as replacement of problem behaviors with developmentally appropriate behaviors.. Medicating children with autism is difficult, but is often necessary for chronic behavioral difficulties. In the absence of clear and present guidelines, we have attempted to use evidence and clinical experience to suggest an algorithm based on symptom clusters. Although children with autism may be responsive to medications at lower doses and more susceptible to side effects than other children, medical intervention can produce a significant improvement in the quality of life for the child and family. Careful thought leading to correct identification of target behaviors can appropriately direct better alternatives for medication. Although these approaches are costly and time-consuming endeavors, the expenditure of such efforts is the only available pathway to improve the potential outcomes for individuals with autism as well as decrease the lifetime societal costs for each individual.

Autistic Disorder↗

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.

BACKGROUND: Autism is a pervasive developmental disorder characterized by a triad of deficits: qualitative impairments in social interactions, communication deficits, and repetitive and stereotyped patterns of behavior. Although autism is etiologically heterogeneous, family and twin studies have established a definite genetic basis. The inheritance of idiopathic autism is presumed to be complex, with many genes involved; environmental factors are also possibly contributory. The analysis of chromosome abnormalities associated with autism contributes greatly to the identification of autism candidate genes. CASE PRESENTATION: We describe a child with autistic disorder and an interstitial deletion on chromosome 4q. This child first presented at 12 months of age with developmental delay and minor dysmorphic features. At 4 years of age a diagnosis of Pervasive Developmental Disorder was made. At 11 years of age he met diagnostic criteria for autism. Cytogenetic studies revealed a chromosome 4q deletion. The karyotype was 46, XY del 4 (q31.3-q33). Here we report the clinical phenotype of the child and the molecular characterization of the deletion using molecular cytogenetic techniques and analysis of polymorphic markers. These studies revealed a 19 megabase deletion spanning 4q32 to 4q34. Analysis of existing polymorphic markers and new markers developed in this study revealed that the deletion arose on a paternally derived chromosome. To date 33 genes of known or inferred function are deleted as a consequence of the deletion. Among these are the AMPA 2 gene that encodes the glutamate receptor GluR2 sub-unit, GLRA3 and GLRB genes that encode glycine receptor subunits and neuropeptide Y receptor genes NPY1R and NPY5R. CONCLUSIONS: The deletion in this autistic subject serves to highlight specific autism candidate genes. He is hemizygous for AMPA 2, GLRA3, GLRB, NPY1R and NPY5R. GluR2 is the major determinant of AMPA receptor structure. Glutamate receptors maintain structural and functional plasticity of synapses. Neuropeptide Y and its receptors NPY1R and NPY5R play a role in hippocampal learning and memory. Glycine receptors are expressed in very early cortical development. Molecular cytogenetic studies and DNA sequence analysis in other patients with autism will be necessary to confirm that these genes are involved in autism.

Autistic Disorder↗

A survey of voiding dysfunction in children with attention deficit-hyperactivity disorder.

PURPOSE: Physicians treating attention deficit-hyperactivity disorder (ADHD) have long had the clinical impression that these children suffer disproportionately from voiding dysfunction and incontinence. However, no data exist to confirm this suspicion. In an attempt to investigate this clinical finding, we administered a survey asking about any functional bladder symptoms to a group of children with ADHD and a control group without ADHD. MATERIALS AND METHODS: The Dysfunctional Voiding Symptom Survey (DVSS) was administered to a group of children being treated for rigorously diagnosed ADHD and a control group without ADHD. The DVSS consists of 10 questions that assess daytime incontinence, nocturnal enuresis, constipation, urgency, voiding frequency and dysuria, each scored from 0 to 4 (0-never, 1-almost never, 2-less than half the time, 3-about half the time, 4-almost every time) for a maximum total score of 40 (severest symptoms). Scores for patients and controls were compared for each question and in aggregate. Boys and girls underwent separate statistical analysis. An additional eleventh question assesses recent stressful events within the family. RESULTS: The patient group included 23 boys and 5 girls, and the control group 10 boys and 12 girls. Children with ADHD of both sexes had statistically significant higher overall DVSS scores. Boys had significant differences on several questions. Due to the small number of girls, there were no statistically significant differences on individual questions. CONCLUSIONS: Children with ADHD have significantly higher rates of incontinence, constipation, urgency, infrequent voiding, nocturnal enuresis and dysuria than those without ADHD. Further study is needed to discern the cause of this difference and develop appropriate treatment strategies.

Adolescent↗