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Etiologic yield of autistic spectrum disorders: a prospective study.

Studies addressing etiologic yield in childhood developmental disabilities have mainly looked at individuals with developmental delay/mental retardation. The few studies addressing the question of etiologic yield in patients with pervasive developmental disorders (PDDs) had a major drawback, in that the enrolled subjects were diagnosed as having the autistic spectrum disorders based only on history and clinical examination, and/or on unspecified instruments. In addition, only some of these patients underwent a complete laboratory evaluation. To investigate the etiologic yield of PDDs, we undertook a large prospective study on subjects selected according to very strict criteria and diagnosed as having PDD based on the present "gold standard" (ADI-R and ADOS-G), and a clinical diagnosis made by a child psychiatrist. Eighty-five (85) patients with PDD and their first degree relatives participated in this study. These patients were selected from a sample of 236 subjects who had received a clinical diagnosis of PDD at the Stella Maris Institute between March 2002 and 2005. Selection criteria for entering the study were: (1) a diagnosis of PDD (with exclusion of the Rett syndrome) confirmed after the administration of the ADI-R (autism diagnostic interview-revised) and the ADOS-G (autism diagnostic observation schedule-generic). In addition, a clinical diagnosis was made by the child psychiatrist, on the basis of presence or absence of DSM-IV symptoms of autism; (2) chronological age between 4 and 18 years; (3) IQ>30; (4) availability of both biologic parents. Patients, 65/85 (76.5%), had autism, 18/85 (21.2%) had PDD-NOS, and the remaining 2/85 (2.3%) had Asperger syndrome. Ages varied between 4 years 2 months and 12 years 5 months (mean 7.6 years), and there was a marked male preponderance (68/85). All subjects underwent various laboratory studies and neuroimaging. With respect to possible etiologic determination, a detailed history and physical examination in this group of patients with PDD was informative in 10.5% (9/85). HRB karyotype was diagnostic in one, and molecular fragile X studies in one child. Brain MRI was informative in two children (2.3%) with relative macrocrania but no neurological features; and EEG was helpful in one child, identifying a Landau-Kleffner disorder. Audiometry and brainstem auditory evoked potentials (BAEPs) showed a bilateral sensorineural loss in another child. Metabolic evaluation gave normal results in all subjects. The results suggest an evaluation paradigm with reference to etiologic determination for individuals with PDDs that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk, treatment implications, and significant and long-lasting emotional relief for the parents suggest that serious consideration be given to clinical genetic examination, genetic testing, EEG study (during wakefulness and sleep), and audiometry, despite a relatively low yield.

Adolescent↗

Validity of the PAS-ADD for detecting psychiatric symptoms in adults with learning disability (mental retardation).

The Psychiatric Assessment Schedule for Adults with Developmental Disability (PAS-ADD) is a semi-structured interview for use with respondents who have learning disability and for key informants. This report investigates the ability of the instrument to detect symptoms that had been found to exist during routine clinical assessment of the patients. Field trials involved 95 referred patients with learning disability and a key informant for each sample member. Clinical opinions of the referring psychiatrists were sought using a symptom checklist. Referrer checklist symptoms and PAS-ADD data were both factor analysed. Validity testing involved (a) computation of correlations between PAS-ADD factors and checklist data and (b) comparison of PAS-ADD and referrers' diagnoses. Results indicated good validity for the PAS-ADD in relation to psychotic symptoms and depressive symptoms. Anxiety symptom identification was not well validated, probably due to small numbers. Expansive mood identified by the referrers was not detected by the PAS-ADD because there is currently no corresponding section in the interview. Where the PAS-ADD produced a diagnosis (in 58 members of the sample), 44 were in agreement with the referrer. Probability of diagnosis by PAS-ADD increased with the number of relevant active symptoms identified by the referrer. The PAS-ADD has been shown in a previous report to have the sensitivity to detect mental disorders not known to psychiatric services. For psychotic and depressive conditions, our results showed that symptom detection was in good agreement with the information provided by the referring psychiatrists on their patients. The PAS-ADD needs a section on hypomania and further investigation of its detection of anxiety disorders.

Adolescent↗

Representation of international authorship across prominent journals in the field of mental retardation.

This article is a reflection of international publication trends across prominent journals in the field of mental retardation. Journals reviewed were the Journal of Applied Behavior Analysis, Journal of Intellectual Disability Research, Mental Retardation, and Research in Developmental Disabilities. Percentage of authors from the United States (US) and other countries were evaluated. US authors represented 84-91% in US journals, while US representation in foreign journals was much lower at 21%. The implications of these findings are discussed.

Authorship↗

Program and policy issues affecting home and community-based long-term care use: findings from a qualitative study.

This paper describes a qualitative study of factors affecting decisions about use of Medicaid-funded long-term care (LTC) services in Arkansas for the elderly (aged 65+), non-elderly adults with physical disabilities (aged 21-64), and adults with developmental disabilities (aged 18+). From focus groups with LTC service providers and key informant interviews with consumers and other decision-makers, three themes for improving LTC services emerged: (1) Leveling the playing field for home and community-based services (HCBS) and institutional services; (2) information dissemination and counseling; and (3) expanding services to meet unmet needs. Policy recommendations are made to improve access to HCBS.

Adult↗

Physical activity for adolescents with intellectual disability.

Numerous studies have described an association between participation in physical activity and an enhanced sense of well-being. These findings have been documented in both genders across the lifespan. Connections between exercise and positive physical, psychological, emotional and educational outcomes have also been found. New findings indicate that is an ongoing and increasing tendency for sedentary lifestyles across age groups and gender in many countries. In addition, there are many factors that work together to contribute to a sedentary lifestyle in individuals with intellectual and developmental disability (ID/DD). These findings are concerning, and indicate that people with ID/DD are at relatively high risk for the development of multiple negative consequences of physical inactivity. This review presents current literature that addresses the question of physical activity in adolescents with ID/DD. In addition, this review presents the connection between higher levels of physical fitness and better health in youths with ID/DD. Strategies to promote physical activity in the adolescent population with ID/DD are presented. The available evidence base strongly supports the high need for the establishment of community based, easily accessible physical activity programs for children and adolescents with ID/DD.

Activities of Daily Living↗

Extremely low-birth-weight children and their peers. A comparison of school-age outcomes.

OBJECTIVE: To document 7-year developmental and educational outcomes in a cohort of predominantly white, middle-class, extremely low-birth-weight (ELBW, < 1000 g) children to address the incidence of increased developmental disability and the need for special educational services. DESIGN: Observational study. PATIENTS: Fifty-four ELBW children and 58 comparison children, who were matched for race, gender, and socio-economic status (30 with low birth weights [1500-2500 g] and 28 with birth weights > 2500 g). The ELBW cohort was drawn from 104 presurfactant survivors born between 1984 and 1986 and cared for in a single hospital. SETTING: Suburban, university-based tertiary referral center. MAIN OUTCOME MEASURES: Teachers' reports of classroom placement and special education services and tests of cognitive, motor, language, and visual-motor integration abilities were studied. RESULTS: Twenty-seven (50%) of 54 ELBW children were in regular classrooms with no special services compared with 21 (70%) of 30 in the low-birth-weight group and 27 (93%) of 28 in the full-term group, indicating a significant trend toward increasing need for special services with decreasing birth weight across the 3 groups (P < .001). The ELBW group scored significantly lower than the comparison groups on all tests, although generally within the average range. Seventy-nine percent of ELBW children had average cognitive scores, but they averaged 14 to 17 points lower than the 2 comparison groups. Twenty percent of the ELBW children had significant disabilities including cerebral palsy, mental retardation, autism, and low intelligence with severe learning problems. CONCLUSIONS: Even with optimal socioeconomic environments, 20% of ELBW children are significantly disabled, and 1 of every 2 ELBW children requires special educational services. Objective testing pinpointed weakness on all measures compared with matched peer groups.

Case-Control Studies↗

Developmental testing.

Pediatricians play a central role in monitoring the development of infants and children during the course of providing well child care. Parents turn to pediatricians for help in determining whether their child has a temporary lag in development, a serious delay or disorder, or a significant behavior problem that should be addressed. With the passage of PL 99-457, pediatricians also play a key role in referring children at risk to early intervention services. By employing a strategy of developmental surveillance, with periodic developmental screening, the pediatrician can determine when a child should be referred for more extensive developmental or psychological testing, which will aid in the process of diagnosis and treatment of developmental disabilities and behavioral disturbances. Knowledge of the screening and testing measures used commonly, as well as their limitations, will result in more accurate interpretation of the data derived from such measures. Once delays are diagnosed and treatment is initiated, repeated assessments over time will serve to identify areas in need of continuing intervention while indicating gains made in specific areas of developmental functioning. Throughout this process, the pediatrician's role as advocate for the child and family serves as a bridge to other professionals and services, with the ultimate goal of facilitating the optimal development of the child.

Aptitude Tests↗

Direct care staff's need for support in their perceived work role in day activities units.

AIMS: This study sets out to investigate direct care staff's views of their need for support, supervision, and training in their practice in day care settings when supporting daily occupations among developmentally disabled persons. BACKGROUND: The first line staff are considered as having a prominent role in the successful delivery of service. METHODS: Three municipalities, one urban and two rural areas in southern Sweden, were chosen for the study. The studied population n = 81 consisted of 94.1% of all staff employed in day activities units supporting the clients' daily occupations or community-integrated, sheltered work employment. The data were collected by means of a questionnaire. FINDINGS: This material identified the staff's perceived work role, and their needs for support, supervision, and training in the areas of communication, environment adaptation, individual activation and training methods, with regard to learning disabilities and special needs. CONCLUSIONS: Care managers should focus upon preparation of staff support programmes to improve the quality and efficiency in this area of care.

Adult↗

Developmental and behavioral pediatric practice patterns and implications for the workforce: results of the Future of Pediatric Education II Survey of Sections Project.

A survey of developmental-behavioral pediatricians was conducted to obtain data and insights on their current practice. As part of the Future of Pediatric Education (FOPE) II Survey of Sections Project, questionnaires were sent to individuals who were most likely to represent those pediatricians engaged in the subspecialty of developmental-behavioral pediatrics. Four groups of physicians were compared within the survey: developmental-behavioral fellowship group (n = 272), developmental disabilities fellowship group (n = 139), general academic pediatrics or other fellowship group (n = 57), and a nonfellowship group (n = 224). A majority of respondents indicated a need for an increased number of subspecialists in developmental-behavioral pediatrics in their community during the next 3 to 5 years. There were significant differences in the survey results of a variety of practice issues between those who had and had not received formal fellowship training. The survey data illustrate a developmental-behavioral pediatrician workforce that is becoming increasingly fellowship trained, receiving more referrals, and encountering constraints to seeing more patients in an era of declining reimbursement for services. To overcome these obstacles, stakeholders in child health, including health care payers, will need to be educated about the unique skills and clinical expertise of physicians in developmental-behavioral pediatrics and neurodevelopmental disabilities.

Child↗

Measured energy expenditure of tube-fed patients with severe neurodevelopmental disabilities.

OBJECTIVE: To determine measured resting energy expenditure (REE) of nonambulatory tube-fed patients with severe neurological neurodevelopmental disabilities. METHODS: Twenty patients were prospectively studied. Only steady state indirect calorimetry measurements were taken. All measurements were conducted using a canopy system. Nutritional needs were met entirely by enteral feedings via a permanent ostomy. RESULTS: REE was widely distributed from 16 kcals/kg/day to 39 kcals/kg/day. The mean REE (888+/-176 kcals/day) of the patients was significantly (p<0.01) lower than predicted as estimated by the Harris-Benedict equations (1081+/-155 kcals/day) and World Health Organization equations (1194+/-167 kcals/day). Fat-free mass (FFM) was the best parameter for predicting REE. Two predictive equations were developed that are not significantly biased and more precise (< or =15% error) than conventional predictive formulas. CONCLUSION: Conventional formulas for estimating energy expenditure are inaccurate and generally overestimate measured energy expenditure of nonambulatory patients with severe developmental disabilities.

Adolescent↗

Prevalence and selected characteristics of childhood vision impairment.

The objective of this study was to examine the descriptive epidemiology of vision impairment among 6- to 10-year-old children in metropolitan Atlanta, Georgia, USA. Children with vision impairment (n=310; 42% black, 56% white; 57% male, 43% female), defined as a best corrected visual acuity in the better eye of 20/70 or worse, were identified through the Metropolitan Atlanta Developmental Disabilities Surveillance Program. The overall prevalence was 10.7 per 10,000 children. Fifty-nine percent had low vision; nearly two-thirds had coexisting disabilities. Educational program varied by vision impairment severity and presence of coexisting disabilities. The common presence of coexisting disabilities emphasizes the importance of multidisciplinary services. The inclusion of case ascertainment sources other than vision impairment classes is critical to ensure an accurate prevalence rate and unbiased description of children with vision impairment.

Child↗

Neurodevelopmental outcome in children with intrauterine growth retardation: a 3-year follow-up.

The study was designed to detect early clinical predictors of developmental outcome in children with intrauterine growth retardation. Eighty-five children with intrauterine growth retardation were followed up prospectively to 3 years of age, using biometric parameters, perinatal risk questionnaires, and neurodevelopmental evaluations. Forty-two children served as controls. A significant difference in neurodevelopmental score at 3 years of age was noted between the intrauterine growth retardation and control groups (P < .001). In the intrauterine growth retardation group, the clinical parameters that most significantly correlated with outcome were cephalization index (head circumference:birthweight ratio), neonatal risk score, and birthweight. The best predictor of 3-year outcome was the cephalization index (P < .01). The children with intrauterine growth retardation with neonatal complications had significantly lower IQ scores (P < .05) and a poorer neurodevelopmental outcome (P < .01) than those without complications. Children with intrauterine growth retardation are at higher risk for developmental disabilities than are controls, especially in the presence of neonatal complications and a high cephalization index.

Case-Control Studies↗

Neurodevelopmental outcome of infants with hypoplastic left heart syndrome.

The neurodevelopmental outcome of hypoplastic left heart syndrome in infants remains unclear. All 11 survivors of staged surgical repair of hypoplastic left heart syndrome received standardized neurodevelopmental assessments at one regional children's hospital. Seven children (64%) had major developmental disabilities. Quality-of-life outcomes must be considered when management options for children with hypoplastic left heart syndrome are evaluated.

Cerebral Palsy↗

Preventing Alcohol Abuse among Early Adolescents through Family and Computer-Based Interventions: Four-Year Outcomes and Mediating Variables.

III-timed and excessive use of alcohol is associated with multiple and irreversible disabilities. The relationship between perinatal alcohol use and developmental disabilities, including fetal alcohol syndrome, is well documented. Empirical evidence also links alcohol use to a host of other developmental and physical problems among the offspring of drinkers and among drinkers themselves. Toward advancing the science of how to reduce alcohol abuse risks, this study developed and tested family and computer-based approaches for preventing alcohol use among a community sample of inner-city minority youth. Original findings from 4-year follow-up data obtained from over 90% of the study sample document continued positive program outcomes and shed light on cognitive problem solving, peer, and family mediators of alcohol use risk and protective factors among target youth.

Journal Article↗

Who benefits most from respite care?

This study examines the effect of five measures of utilization of respite care services (desire to use respite care services, actual use, accessibility, scheduling and helpfulness) upon mothers' coping resources. Using the analysis of variance between utilization measures and coping resources with the following intervening variables as covariates--mothers' self-esteem, family cohesion and adaptation, and clients' and mothers' characteristics--it was found that respite care acts as a differential service that can enhance coping resources (i.e., stress reduction skills) and is of most benefit to high self-esteem mothers of young developmentally disabled children. A home-based model was found to be the most beneficial to mothers in terms of enhanced coping resources. Findings are interpreted with respect to their implications for research, program model, planning and intervention.

Adaptation, Psychological↗

The effects of establishing operations on preferences for tangible items.

Researchers have demonstrated that both deprivation and satiation can affect the outcome of preference assessments for food. In the current study, paired-stimulus preference assessments for tangible items were conducted under three conditions: control, deprivation, and satiation. Three persons with developmental disabilities and 3 typically developing preschool children served as participants. The results demonstrated that deprivation and satiation influenced the outcome of preference assessments of leisure items or toys.

Adolescent↗

Extremely low birth weight children and their peers: a comparison of preschool performance.

Though not well studied, extremely low birth weight (ELBW; < 1000 g) appears to be a major risk factor for developmental disability, with most affected children experiencing school problems (40% to 64%) rather than severe handicap (25%). This study marks the first published US attempt to document prospectively the developmental/educational progress of a cohort of predominantly white, middle-class ELBW children with randomly selected and matched heavier birth weight (1500 through 2500 g and > 2500 g) peer comparison groups. Sixty ELBW children and 60 peers were administered a test battery at age 4 years, including the McCarthy Scales of Children's Abilities, Peabody Picture Vocabulary Test, and Beery Test of Visual-Motor Integration. The ELBW group mean scores were significantly lower than those of the peer groups on every measure, although generally still within 1 SD of the test mean. Twenty-three percent were clearly disabled; 26% had optimal development, having attained at least average scores on all measures; and 51% attained borderline scores globally or had an average cognitive score, but specifically poor performance in one or more areas. Comparison groups were 2 1/2 times more likely to have optimal development and had mean cognitive scores 15 to 18 points higher than the ELBW group. In summary, weaker performance on all measures exists prior to school entry among nondisabled ELBW children compared with their peers. It is unclear whether these data portend emerging school-based disabilities or describe a continuing recovery process to be completed in middle childhood. Continued follow-up of this cohort at 7 and 10 years of age will address these questions.

Birth Weight↗

Frequency of knowledge of results and motor learning in persons with developmental delay.

The purpose of this study was to investigate the effect of high versus low frequency knowledge of results (KR) in a group of 16 individuals with developmental delay and in gender and age-matched average individuals learning a motor skill on a laptop computer. Participants were randomly assigned to either a 100% KR or a 50% KR group. KR was provided during the acquisition phase according to group assignment as participants learned the motor skill, whereas no KR was provided during the retention phase. Results indicated both populations who received 50% KR in the acquisition phase demonstrated better performance in the retention phase than those who received 100% KR. The results of this study suggest that, as has been found in the average population, feedback that is too frequent can interfere with learning and retention of tasks for individuals with developmental disabilities (DD). Limitations involved the small sample size along with the task potentially being artificial in nature. Future research is needed to study further the effects of frequency of KR on skill acquisition, particularly in instrumental activities of daily living in this population.

Adult↗