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PubMed1997

Chiari I malformation: association with seizures and developmental disabilities.

Chiari I malformation, a congenital abnormality in which deformed cerebellar tonsils are displaced downward through the foramen magnum, commonly presents in patients with headache or symptoms of dysfunction of the cerebellum, brain stem, and cervical spinal cord. We report 11 children with Chiari I malformation who presented with seizures and developmental delay in motor or language function with or without autistic features. To our knowledge, an association between Chiari I malformation and seizures or neurodevelopmental deficits or both has not been previously reported. We believe that Chiari I malformation should not be considered an incidental finding in these patients, but may be a marker for subtle cerebral dysgenesis. Chiari I and II malformations may constitute a complex but continuous spectrum, related to the timing and severity of a shared underlying embryologic mechanism.

Arnold-Chiari Malformation↗
PubMed2005

Functional characteristics of disruptive behavior in developmentally disabled children with and without autism.

Expanding on Reese et al. [2003], functional behavioral assessment interviews [O'Neill et al., 1997] concerning disruptive behavior were conducted with parents of 23 children with autism (6 females, 17 males, chronological ages [CA] 24-60 months) and 23 controls without autism pair-matched for CA, developmental age and sex. All children exhibited frequent disruptive behavior. The interviews suggested that matched control children's disruptive behavior typically functioned to gain attention or items, or to escape demands in general. This was also true for girls with autism. For boys with autism, disruptive behavior more often functioned to (a) escape demands that interfere with repetitive behavior, (b) retain access to an item used in repetitive routines, or (c) avoid idiosyncratically aversive sensory stimuli (e.g., ordinary household noises). These results emphasize the importance of considering behavioral characteristics that are associated with sex and specific disorders or syndromes when conducting functional behavioral assessments.

Attention Deficit and Disruptive Behavior Disorder↗
PubMed1993

Early sleep patterns of premature infants are differentially related to later developmental disabilities.

The sleep states and wakefulness of 100 prematurely born infants were recorded for 24-hour periods in the home when the infants were 1, 2, 3, 4, and 5 weeks postterm. Sleep monitoring was accomplished using the Home Monitoring System: analog signals from respiration and body movement are recorded while the infant is on a pressure sensitive crib pad. The signals are computer scored and visually edited in 30-second epochs for quiet sleep, active-quiet transitional sleep, active sleep, sleep-wake transition, and waking. At 3 years of age, the babies were classified into one of four groups: those who were normal and those with neurodevelopmental, physical, or minor mental problems. Assignment to groups was based on Bayley Scales administered at one year, biannual questionnaires throughout the 3 years, and a home visit at 3 years. Individual state measures differentiated the abnormal outcome groups from the normal one, and profiles of state parameters were unique for each outcome group. Profile measures gave greater prediction for individuals than did clinical risk factors. The findings indicate that specific forms of later disabilities in premature infants are expressed in differential organization of sleep states during the early postterm period.

Adolescent↗
PubMed1996

Ranitidine therapy for esophagitis in children with developmental disabilities.

Esophagitis is common in children with cerebral palsy. Because histamine2-receptor antagonists such as ranitidine have not been uniformly effective, we treated disabled children with esophagitis with greater than usual doses. Endoscopy and pH monitoring were used to monitor dose and response to treatment. A dose of 9.3 +/- 0.9 mg/kg/day did not improve visual or microscopic esophagitis after 3 months. A dose of 14.8 +/- 3.9 mg/kg/day resulted in only slight microscopic improvement, but symptoms were improved. There was no correlation between esophageal reflux index at enrollment and either severity of esophagitis or response to treatment. Elevation of gastric pH by ranitidine was infrequent. These results affirm that pH monitoring does not reliably identify disabled children with reflux esophagitis nor does ranitidine reliably heal this disorder.

Adolescent↗
PubMed1989

The Developmental and Family Services Unit--a model AIDS project serving developmentally disabled children and their families.

This paper describes a model program that uses a multidisciplinary team to assess the developmental and psychosocial needs of HIV-infected children and their families. The objective of the program is to assess the needs of the children, in order to provide rehabilitative and psychosocial services; and to improve the quality of life by optimizing developmental functioning. The team includes developmental pediatricians, social workers, psychologists, a medical ethicist, physiatrist, psycho-educational specialist, and occupational, physical, and language therapists, each of whom perform complete evaluations. A weekly conference results in the formation of an individual Family Service Plan for each child and family. Forty children have been evaluated and are in program. Family compositions were varied and non-traditional. The disabilities and rehabilitative needs differed as well. The most frequently required services were occupational therapy and psychosocial intervention, to increase parental coping skills in handling disabled, chronically ill children. Children with HIV infection are living longer and will have serious deficits. The need to develop services to address the unique developmental and psychosocial needs of the children and families iS paramount.

Child↗
PubMed1993

The child with developmental disabilities grown up: adult residua of childhood disorders.

A clinic specializing in learning disabilities and willing to assess adults receives referrals that parallel the three major reasons for referral in the pediatric and adolescent school-aged population: (1) "Is this patient dyslexic"; (2) "Does this patient 'have' ADHD residual type"; (3) "Does this patient have some kind of learning disability?" The third is the most difficult and least well understood, the NVLD or so-called right-hemisphere group, most likely to be referred by mental health facilities and professionals. The first, dyslexia, has the most secure neuroscientific background and in some ways the most straightforward conceptualization yet is still controversial in terms of the subtle and well-masked ways in which its manifestations may be seen. Aptly placed in the second and hence middle position, straddling both dyslexia and NVLD, is that sprawling and emphatically heterogeneous collection of observations agglomerated under the title ADHD and affiliated with the pharmacotherapy of stimulants. Yet for all its sprawl, ADHD stands in relation to its cognitive overlap zone, executive dysfunction, as symptoms do to signs; and executive dysfunction, especially in adults, appears to be a cognitive-deficit cluster of special importance to the persistence of uncompensated or clinically significant learning disabilities. That is, the real question to be answered about adults with learning disabilities is why have they not compensated for cognitive deficits; or, if they have acquired basic academic skills, why have they not been able to use these skills? Unless linguistic or spatial deficits are extremely severe, academic skills can usually be acquired by compensatory strategies and, once acquired, can be used. Ability to compensate (and to generalize the compensation) are crucial determinants of adult learning disabilities outcome. Less is understood about nonacademic skills, of which the social domain seems least optional, i.e., most pervasively important. Spatially based skills are the least difficult to avoid or circumvent. Absent severe linguistic or spatial cognitive deficits, the most central neuropsychologic issues in adult learning-disability studies are executive dysfunction and social imperception/ineptitude. At present, executive dysfunction is the one of these two that can be evaluated in a behavioral neurology clinic.

Adult↗
PubMed2005

Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities.

Positron emission tomography (PET) is a technique that enables imaging of the distribution of radiolabeled tracers designed to track biochemical and molecular processes in the body after intravenous injection or inhalation. New strategies for the use of radiolabeled tracers hold potential for imaging gene expression in the brain during development and following interventions. In addition, PET may be key in identifying the physiological consequences of gene mutations associated with mental retardation. The development of high spatial resolution microPET scanners for imaging of rodents provides a means for longitudinal study of transgenic mouse models of genetic disorders associated with mental retardation. In this review, we describe PET methodology, illustrate how PET can be used to delineate biochemical changes during brain development, and provide examples of how PET has been applied to study brain glucose metabolism in Rett syndrome, serotonin synthesis in autism, and GABAA receptors in Angelman's syndrome and Prader-Willi syndrome. Future application of PET scanning in the study of mental retardation might include measurements of brain protein synthesis in fragile X syndrome and tuberous sclerosis complex, two common conditions associated with mental retardation in which cellular mechanisms involve dysregulation of protein synthesis. Mental retardation results in life-long disability, and application of new PET technologies holds promise for a better understanding of the biological underpinnings of mental retardation, with the potential to uncover new treatment options.

Autistic Disorder↗
PubMed2005

Disambiguation and mapping of new word meanings by individuals with intellectual/ developmental disabilities.

Wilkinson and Green (1998) reported that differences in the procedure by which new words were introduced to learners with cognitive impairments significantly affected their accuracy in later tests of receptive understanding of word meanings. However, a limited sample and no control group rendered the data preliminary. Here, I replicated and extended the research. First, a control group of preschool children, matched on receptive vocabulary age, was compared to individuals with intellectual disability of unspecified origin. Second, performance was also evaluated in three matched groups of varying etiology: unspecified, Down syndrome, and autism spectrum disorders. Performance on receptive word matching differed between preschool children and their matched experimental groups as well as among matched etiological groups.

Child↗
PubMed2005

Applications of gene targeting technology to mental retardation and developmental disability research.

The human and mouse genome projects elucidated the sequence and position map of innumerous genes expressed in the central nervous system (CNS), advancing our ability to manipulate these sequences and create models to investigate regulation of gene expression and function. In this article, we reviewed gene targeting methodologies with emphasis on applications to CNS development and neurodevelopmental disorders.

Alleles↗
PubMed1990

Early identification of developmentally disabled and at-risk preschool children.

This study examined child-centered data (from birth to 7 years) and familial factors as possible predictors of disabilities in adolescence. The sample was taken from original participants in the National Collaborative Perinatal Project in Rhode Island who were also judged as handicapped after school entry. Results of the current study indicated that parental traits (i.e., maternal education) are more accurate predictors of adolescent status than the child's own behavior from birth to 3 years, whereas child-centered skills assessed at 4 and 7 years of age are better predictors than are familial factors. Overall, data suggest that early identification models which focus upon developmental delay or adverse medical events from birth to 3 years of age are inadequate in fully identifying children eventually judged to be handicapped. Screening initiatives must be developed that are multivariate (child and family focused) and account for differential weights of risk factors over time.

Adolescent↗
PubMed1994

Weight gain and triceps skinfolds fat mass after gastrostomy placement in children with developmental disabilities.

OBJECTIVE: To determine appropriate outcome indicators of nutritional status that are measurable over time after gastrostomy placement in children with severe neurologic impairments. DESIGN: Twenty-two nonambulatory children met the selection criteria: feeding by gastrostomy of at least 50% of total energy, age between 1 and 12 years, diagnosis of neurologic impairments, and presurgical recommendation for weight gain. Each child served as his or her own control; three assessments were made after gastrostomy placement. SETTING: Children were seen in specialty outpatient clinics. STATISTICAL ANALYSES: Scores and Pearson product moment correlations. RESULTS: Outcomes of gastrostomy placement were (a) increase in actual weight, (b) increase in weight-age equivalent, (c) rate of weight accretion as expected by National Center for Health Statistics growth charts and improved z scores for half of the children, and (d) improvement in triceps skinfolds percentiles for nearly half (n = 10) of the children. The results reflect the heterogeneity of children with severe disabilities. Pearson correlations showed a significant relationship between chronologic age and weight-age equivalent (r = .96), but not for weight for age and weight-age equivalent, or triceps skinfolds fat mass and weight-age equivalent. CONCLUSIONS/APPLICATIONS: Weight and triceps skinfolds fat mass were appropriate outcome indicators of nutritional status measurable over time. Weight-age equivalent and z scores were more helpful than standard growth plots for interpreting weight gain over time. Our data also support findings that undernutrition limits growth before gastrostomy placement in patients with disabilities. Nutritionists are encouraged to track improvement in nutritional status after gastrostomy placement with measurements of triceps skinfolds fat mass and to use the information to support families facing decisions about the need for this surgery.

Adipose Tissue↗
PubMed2006

Chronic rumination reduction in a severely developmentally disabled adult following combined use of positive and negative contingencies.

The use of combined positive and negative contingencies markedly reduced ruminative behavior in a severely mentally retarded, blind 20-year-old male residing in a residential treatment facility. A 95.4% decrease in rumination events occurred from baseline to follow-up. This procedure is offered as an effective and convenient treatment for chronic rumination.

Adult↗