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Collaborative planning between pediatricians and special educators.

The pediatrician is often the first professional consulted when parents are concerned that their child might have a developmental disability. Current federal laws providing education and related services for the disabled have included the pediatrician as a participant in accessing services available to this population from birth through age 21. A review of the elements of these laws and how the pediatrician can take a more active role with the disabled population is presented, and case examples are cited.

Adolescent↗

The capacity of people with a 'mental disability' to make a health care decision.

BACKGROUND: Based on the developing clinical and legal literature, and using the framework adopted in draft legislation, capacity to make a valid decision about a clinically required blood test was investigated in three groups of people with a 'mental disability' (i.e. mental illness (chronic schizophrenia), 'learning disability' ('mental retardation', or intellectual or developmental disability), or, dementia) and a fourth, comparison group. METHODS: The three 'mental disability' groups (N = 20 in the 'learning disability' group, N = 21 in each of the other two groups) were recruited through the relevant local clinical services; and through a phlebotomy clinic for the 'general population' comparison group (N = 20). The decision-making task was progressively simplified by presenting the relevant information as separate elements and modifying the assessment of capacity so that responding became gradually less dependent on expressive verbal ability. RESULTS: Compared with the 'general population' group, capacity to make the particular decision was significantly more impaired in the 'learning disability' and 'dementia' groups. Importantly, however, it was not more impaired among the 'mental illness' group. All the groups benefited as the decision-making task was simplified, but at different stages. In each of the 'mental disability' groups, one participant benefited only when responding did not require any expensive verbal ability. CONCLUSIONS: Consistent with current views, capacity reflected an interaction between the decision-maker and the demands of the decision-making task. The findings have implications for the way in which decisions about health care interventions are sought from people with a 'mental disability'. The methodology may be extended to assess capacity to make other legally-significant decisions.

Adolescent↗

Transdermal scopolamine for reduction of drooling in developmentally delayed children.

Ten developmentally delayed children with excessive drooling were randomized in a double-blind, placebo-controlled study to assess the efficacy and safety of transdermal scopolamine. Over half of the patients had a statistically significant reduction in drooling, and one-third had cessation of drooling, while wearing the scopolamine patch. This short-term study supports earlier reports of the safety and efficacy of transdermal scopolamine for reducing excessive drooling in developmentally disabled children.

Administration, Cutaneous↗

Developmental consultation services in two communities.

This study reports on the characteristics of children referred for developmental services in two different communities. Delayed language development was the most frequent presenting complaint. Children seen at the less affluent setting had significantly more severe problems at presentation. They were referred for evaluation of language problems at a significantly later age. Parents at both settings were aware of their children's problems. Recommendations for improving the early detection of developmental disabilities are outlined.

Child↗

Services for infants and toddlers with disabilities: IDEA, Part H.

In October 1986 P.L. 99-457, the Education of the Handicapped Act Amendments of 1986, was enacted. Part H of this legislation obligates participating states to provide early intervention services to children with developmental disabilities from birth up to their third birthday. This act has since been renamed the Individuals with Disabilities Education Act. All states are now planning to implement this act through the development of multidisciplinary, comprehensive service delivery systems, and social workers in health care settings will play a critical role in the identification, referral, and case management of services for the affected population. This article describes the mandates of this legislation and defines the social worker's role.

Case Management↗

Parent- and self-ratings of anxiety in children with mental retardation: agreement levels and test-retest reliability.

This study examined fears in children with and without developmental disabilities. Children assigned to classes designed as developmentally handicapped (D), integrated (or mainstreamed) (I), and regular (R) were assessed. In all, 82 children were tested and retested over a 2-week interval. Self ratings and parent ratings were obtained. Three instruments were used to assess specific fears, social anxiety, social competence, and behavior problems: the Fear Survey Schedule for Children--Revised, the Social Anxiety Scale for Children, and the Child Behavior Rating Form. Correlations between parent and child ratings were fair to good. Child-parent agreement was nonsignificantly higher for children without disabilities and for children with mild handicaps integrated into regular education programs than for children in classes designated as Developmentally Handicapped. Children's test-retest reliabilities were generally higher than those of parents. Children without disabilities showed significantly higher consistency over time than children with disabilities.

Adolescent↗

The relationship between food refusal and self-injurious behavior: a case study.

Food refusal and self-injurious behavior often co-occur in children with developmental disabilities and mental retardation. The subject of the case study was a 3-yr-old boy with food refusal, self-injurious behavior and developmental delay. Using an alternating treatment design, positive reinforcement for acceptance combined with either nonremoval of the spoon or guidance for refusal increased food acceptance and resulted in a decrease in self-injurious behavior despite not being targeted. Although the contingencies for acceptance, refusal and self-injurious behavior remained constant, self-injurious behavior increased with an increase in grams consumed. A combined treatment of positive reinforcement for acceptance, guidance for refusal, position change and gastrojejunal feedings resulted in a decrease in self-injurious behavior and an increase in grams consumed.

Behavior Therapy↗

Interprofessional educational partnerships in school health for children with special oral health needs.

Dental caries is an infectious yet preventable disease that is rampant in some subpopulations in the United States, in particular among individuals with neurodevelopmental/intellectual disabilities (ND/ID). This article reports on the implementation and evaluation of the Louisiana State University Health Sciences Center (LSUHSC) School of Dentistry interprofessional school health educational model to improve oral health assessment and referral for children with ND/ID in an inner-city school system. During this project, dental hygiene students and elementary school nurses were paired to assess the oral health status of 255 inner-city children with developmental disabilities, improve referral/access to dental care for those identified as having need, and propose dental hygiene curriculum changes that would incorporate participation in a "real-life public health setting" for those with ND/ID. Following the program, 66 percent of dental hygiene students said their likelihood of participating in future oral health programs had increased and 75 percent of school nurses rated the educational process as very good or excellent. Modifications in dental hygiene curricula that provide students with training and experience in oral health risk assessment and referral for people with ND/ID is recommended to address the new Commission on Dental Accreditation educational standards 2-18 and 2-26 (implemented January 1, 2005) and dental standard 2-26 (implemented January 1, 2006), which state that dental hygiene and dental graduates must be competent in assessing the treatment needs of patients with special needs.

Child↗

Gender differences in special needs populations.

The August 2000 Surgeon General's report confirmed that neglected, vulnerable populations in the United States are not adequately receiving oral health services. The silent epidemic of dental and oral diseases in population groups such as persons with MRDD and the geriatric population results in a diminished quality of life. This article presents a study and research design intended to gather data and report the results as related to the needs of a population with MRDD. The Surgeon General stated that oral health issues in relation to gender have not been explored adequately. The data that were collected add information on health, [table: see text] disease, and health practices in a neglected population, helping in part to address this important concern. The analysis of study data statistically confirmed certain differences between women and men in this special needs population. Women and men experienced a similar number of filled surfaces and missing teeth. Reports of oral pain and daily tooth cleaning were also similar. The rates of fluorosis and the need for urgent treatment differed by gender, as did the number of persons missing a combination of anterior and posterior teeth. In this population men exhibited a greater frequency of past oral injury than women and a greater burden of untreated caries. Men also exhibited a greater frequency of gingival signs, indicating a possible lack of attention to proper oral hygiene; this finding was coupled with their greater frequency of need for urgent dental treatment. Although some reasons for these findings can be postulated, more research into the causes is warranted. Those findings can then form the basis for sound policy decisions that will improve the oral health of both men and women with special needs. Barriers to improved oral health, whether they result from problems with access to providers, from attitudinal problems inherent in the providers themselves, the patient, or the patient's caretakers, or from a possibly gender-biased database, must be effectively addressed. Such barriers can be removed through increased knowledge that takes into account any physiologic and psychosocial differences in men and women, particularly in the long-neglected segments of the population--the elderly and the developmentally disabled.

Adult↗

Psychiatric and developmental disorders in families of children with attention-deficit hyperactivity disorder.

OBJECTIVE: To evaluate whether a pediatric family history obtained via a brief parent interview would reveal a high prevalence of psychiatric and developmental disorders in the family members of children with attention-deficit hyperactivity disorder (ADHD) compared with a group of children with another chronic developmental disability, Down syndrome (DS). DESIGN: A controlled cross-sectional group comparison study. SETTING: An interdisciplinary hyperactivity and learning problem clinic and a DS clinic located in a large, urban tertiary care teaching hospital in Chicago, Ill. PARTICIPANTS: A total of 140 children with ADHD and 163 children with DS of comparable socioeconomic status. MEASURES: Using a screening questionnaire and parent interview, the development pediatricians obtained a family history. RESULTS: By parent report, children with ADHD were significantly more likely than the control children with DS to have a parent affected by alcoholism (P = .007), other drug abuse (P < .001), depression (P < .001), delinquency (P < .001), learning disabilities (P < .001), and ADHD (P < .001). Similar patterns were evidenced in other first- and second-degree relatives. CONCLUSIONS: The high reported frequency of psychiatric and developmental disorders in the families of children with ADHD requires that the treating clinician explore the area of family psychiatric and developmental history and use the findings to formulate a comprehensive treatment plan that includes anticipatory guidance and psychosocial intervention.

Adolescent↗

Follow-up care of the low birth weight infant.

Care of the preterm infant after discharge is a challenge for the pediatric follow-up team. All premature infants should be followed through infancy and into preschool and school years because of the common ongoing medical concerns and the high risk of developmental disabilities. Although impossible to predict with great accuracy in the neonatal period, it is appropriate to select those preterm infants who have the highest risk for disabilities and provide to them a closer degree of surveillance.

Aftercare↗

Neurodevelopmental outcome of infants with acute lymphoblastic leukemia: a Children's Cancer Group report.

BACKGROUND: Infants diagnosed with acute lymphoblastic leukemia (ALL) are considered the patient subgroup at the highest risk for central nervous system (CNS) disease, both at presentation and as an isolated extramedullary relapse. In addition, they are highly vulnerable to adverse developmental sequelae from CNS-directed therapy. METHODS: Thirty patients younger than 12 months at diagnosis (12 males, 18 females) in first hematologic remission were evaluated after completion of ALL therapy (mean age = 62.1 months; standard deviation = 17.2 months; range = 38-102 months). CNS-directed treatment included very high dose infusions of methotrexate (MTX) and intrathecal cytarabine and MTX. Three patients had meningeal leukemia that required additional therapy. Children were administered the McCarthy Scales of Children's Abilities, and parents completed a sociodemographic questionnaire to obtain information about occupation and education. RESULTS: Mean scores on all 6 cognitive and motor indices of the McCarthy Scales were in the average range (Verbal = 52.0; Perceptual = 53.6; Quantitative = 49.6; General Cognitive Index [GCI] = 102.1; Memory = 49.2; Motor = 51.0). Score distributions for each neurodevelopmental index were comparable to age-based population standards. One patient obtained a GCI that exceeded 2 standard deviations above the mean; none scored more than 2 standard deviations below. There was no report of developmental disabilities or neurologic disorders for any of the patients. Risk factors, including age at diagnosis, gender, additional CNS-directed treatment, and family socioeconomic status, were not associated with developmental outcome. CONCLUSIONS: Test findings indicated a generally positive neurodevelopmental outcome for ALL patients diagnosed in infancy who were treated with very high dose MTX as CNS-directed therapy. Combined with the reduction in the isolated CNS relapse rate achieved by the Children's Cancer Group (CCG) clinical trial CCG-107, the results of this study represent a substantial improvement in neurodevelopmental outcome for very young patients compared with infants treated for ALL in the past.

Antineoplastic Combined Chemotherapy Protocols↗

Functional Independence Measure (WeeFIM) for Chinese children: Hong Kong Cohort.

BACKGROUND: The Functional Independence Measure (WeeFIM) for children is a simple-to-administer scale for assessing independence across 3 domains in American children. WeeFIM was based on a conceptual framework by the World Health Organization (1980) of pathology, impairment, disability and handicap, and the "burden of care." WeeFIM is useful in assessing functional independence in children aged 6 months to 7 years. It can be used for children with developmental disabilities aged 6 months to 21 years. Normative WeeFIM data had been validated for American children. Because of cultural and environmental differences among countries, normative data for the Chinese population are needed. With a normative database, the progression of independence at home and in the community can be evaluated. WeeFIM is an 18-item, 7-level ordinal scale instrument that measures a child's consistent performance in essential daily functional skills. Three main domains (self-care, mobility, and cognition) are assessed by interviewing or by observing a child's performance of a task to criterion standards. WeeFIM is categorized into 2 main functional streams: "Dependent" (ie, requires helper: scores 1-5) and "Independent" (ie, requires no helper: scores 6-7). Scores 1 (total assistance) and 2 (maximal assistance) belonged to the "Complete Dependence" category. Scores 3 (moderate assistance), 4 (minimal contact assistance), and 5 (supervision or set-up) belonged to the "Modified Dependence" category. Scores 6 (modified independence) and 7 (complete independence) belonged to the "Independent" category. The WeeFIM is a 7-level criterion-specific ordinal scale. Level 7 requires no assistance for the child and the child completes the task independently without requiring a device. During the task, there is no concern about safety or taking an inordinate amount of time. Level 6 reflects modified independence and includes use of an assistive device or not completing the task in a timely or safe manner. OBJECTIVE: To examine the utility of the WeeFIM in Chinese children and to create a normative WeeFIM profile suitable for Chinese children. METHOD: Direct interviews were conducted for 445 normal Chinese children, aged 6 months to 7 years, in the community. RESULTS: 1. WeeFIM total score and 3 domains subscores versus age. The total WeeFIM scores increased progressively with age, reaching a plateau at 72 months. There was a progressive increase in subscores of self-care, mobility, and cognition independence between 6 to 62 months, especially between 6 to 45 months. Similarly, the WeeFIM self-care subscores increased progressively with age, reaching a plateau at around 72 months. The WeeFIM mobility subscores increased progressively with age, reaching a plateau at around 54 months. The WeeFIM cognition subscores increased progressively with age, reaching a later plateau at around 80 months. 2. WeeFIM subtotal scores versus age. The total WeeFIM score and 3 domain subscores correlated significantly with age. We further classified the 18 items into 3 groups according to the degree of correlation with age. Most items had high correlation with Spearman's correlation coefficient of rho >0.8. Only 1 item (chair transfer) showed moderate correlation with rho = 0.7-0.8. The item "walk" had the lowest correlation with rho = 0.6-0.7. 3. Chronological order for achieving different items. The 50th percentile of age in months for achieving level 6 (modified independence) of the 18 items were compared and ranked according to the age of achieving level 6. In creating a developmental scale of achievement of level 6 (modified independence) for all 18 items, the developmental sequence clustered in the following order: chair transfer (order 1) and walk (order 2) were achieved much earlier (at 18 and 24 months, respectively). Thereafter, there was a clustering of 4 items achieved at around 45 months: toilet transfer (order 3), stair (order 4), expression (order 5), and social interaction (order 6). Then, 9 items were achieved at around 54 to 56 months: tub or shower transfer (order 7), eating (order 8), bathing (order 9), bowel management (order 10), dressing of lower body (order 11), comprehension (order 12), dressing of upper body (order 13), bladder management (order 14), and grooming (order 15). At 60 months, the following ranked in order: memory (order 16), problem-solving (order 17), and toileting (order 18). 4. Impact of sex factor. Girls aged 22 to 45 months had higher scores in self-care subscores and cognition subscores. From 63 months onwards, boys had statistically significant higher scores in mobility subscores. Otherwise, there was no statistically significant difference in WeeFIM scores for different age groups. 5. Impact of domestic helpers. There was also significant difference for self-care subscore with the presence of a maid at home. Those children with a maid at home obtained lower self-care subscores. However, the mobility and cognition subscores were not affected. CONCLUSION: We have created a normative functional independence profile for Chinese children by adapting the American-based WeeFIM. There were cultural differences when compared with American children. Interestingly, Chinese children in Hong Kong scored better than their American counterparts in domain 1 (self-care) in all ages. This might be attributable to early attendance in preschool settings where children are taught to tend to their needs. Even for domain 2 (mobility), the higher scores in younger Chinese children in Hong King (<3 years) might be explained by earlier attendance in preschool settings. The American children did catch up after 3 years. As for domain 3 (cognition), the local educational system emphasized reading, writing, memorizing materials, and social interaction. Thus, Chinese children in Hong Kong had better cognition scores until 42 months, when their American counterparts caught up by attending preschool. There are definitely environmental and cultural practices affecting functional independence in both ethnic groups, especially in the upper age range (>4 years) both in America and Hong Kong. Thus, a locally validated WeeFIM instrument should be adopted for Chinese children. Our study demonstrated that WeeFIM could be used as a functional independence measure for Chinese children. Hong Kong has a different cultural background compared with America; thus, usage of WeeFIM with different age criteria for achieving independence should be adopted.

Activities of Daily Living↗

Screening for psychiatric symptoms: PAS-ADD Checklist norms for adults with intellectual disabilities.

BACKGROUND: The Psychiatric Assessment Schedule for Adults with Developmental Disabilities Checklist (PAS-ADD Checklist) is a screening instrument designed to help carers recognize likely mental health problems in people with intellectual disabilities (ID). To date there are no published PAS-ADD Checklist data on a large nonpsychiatric population of adults with ID, an important step towards developing norms for comparative purposes. METHODS: Informants who had known participants for a median 24 months completed the PAS-ADD Checklist on 1155 adults with ID living in community, residential care and hospital settings in a county district in the North-east of England. RESULTS: Normative data were obtained for the PAS-ADD Checklist for the study population with reference to gender, age, and type of residence. The overall prevalence of mental health problems was 20.1%, and the rates for affective/neurotic, organic and psychotic disorders were 14%, 3.9%, and 10.2%, respectively. Significant differences in the rates for particular disorders were found across gender, age and, residence type. CONCLUSIONS: The rates of mental disorders found in the study population were consistent with previous studies of general populations of people with ID using over-inclusive screening instruments. The PAS-ADD Checklist appears to be an easy-to-use and sensitive tool for identifying mental health cases in ID populations, but further investigation is required concerning the specificity of the instrument.

Adolescent↗

Fetal alcohol syndrome: neuropsychiatric phenomics.

Fetal alcohol syndrome (FAS) is a common developmental disorder with impairments in multiple neuropsychiatric spheres of varying severity. Few population-derived studies of the behavioral phenotype are available. The purpose of this study was to estimate the prevalence of neuropsychiatric disorders in three groups: subjects who met criteria for FAS (n=152); subjects who met criteria for partial FAS/ARND (n=150); and referred subjects who did not meet criteria for either FAS or partial FAS/ARND (n=86). Each subject had a standardized evaluation by a medical geneticist. All subjects were from North Dakota. We found increases in the prevalence rates of neuropsychiatric disorders in subjects with FAS compared to subjects with partial FAS/ARND and the lowest rates in the group that did not meet criteria for either FAS or partial FAS/ARND. Comorbid attention deficit hyperactivity disorder occurred in 73% of cases with FAS, in 72% cases with partial FAS/ARND, and in 36% subjects who did not meet criteria for either. For other neuropsychiatric disorders, a similar distribution of comorbidity was found. This study supports the concept of a continuum of impairment resulting from prenatal alcohol exposure. The presence of complex cognitive, behavioral, and physical symptomatology in the affected subjects with prenatal alcohol exposure would seem to fit well under the diagnostic rubric of fetal alcohol spectrum disorder (FASD). Diagnosis and long-term management will require increasing access to multidisciplinary child development teams including mental health professionals who treat children and adolescents. Adults will require care primarily from teams with expertise in mental health and developmental disabilities.

Adolescent↗

[Early developmental aspects of Tourette syndrome].

Tourette syndrome is a neuropsychiatric disorder characterized by a combination of multiple motor and vocal tics. It is frequently associated with other manifestations which are typical, though not obligatory for the diagnosis. Some of these manifestations may appear in early childhood and cause developmental disorders. Our observations in 2 families, in which an early developmental symptom was later found to be an associated manifestation of Tourette syndrome, led us to investigate our other patients with this syndrome. In all, 16 patients were studied. Early developmental disabilities, such as speech and language disorder, learning disabilities, attention deficit hyperactivity disorder, motor clumsiness or behavioral problems were found in 8. An epidemiological survey is needed to determine the prevalence of the association of Tourette syndrome with developmental manifestations in early childhood.

Adolescent↗

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

The endoplasmic reticulum (ER) serves as a key hub for protein homeostasis, maintaining a strict quality-control system that ensures only properly folded proteins reach their destinations, while misfolded proteins are degraded via ER-associated degradation (ERAD) or selective ER-phagy. JKAMP, which encodes an ER-resident transmembrane protein involved in ERAD, has not previously been associated with human disease. Here, we report bi-allelic loss-of-function variants in JKAMP in 14 affected individuals from 10 unrelated families presenting with a neurodevelopmental syndrome characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features. An in vivo zebrafish model lacking jkamp recapitulated key aspects of the human disorder, including developmental abnormalities and impaired myelin production, further corroborating its pathogenic role. Mechanistic studies identified GPR37, a brain-enriched orphan G protein-coupled receptor (GPCR) and known JKAMP interactor, as a critical downstream effector. GPR37 plays essential roles in dopaminergic signaling, inflammatory pain regulation, neuroprotection, and myelination. Loss of JKAMP resulted in defective folding and degradation of GPR37, leading to its accumulation within the ER and impaired trafficking to the plasma membrane, likely due to impaired ER quality control. These findings establish JKAMP as a previously unrecognized contributor to human neurodevelopment and uncover a pathogenic mechanism linking ER protein quality control to GPCR regulation and neurological disease.

Humans↗

How children with autism are diagnosed: difficulties in identification of children with multiple developmental delays.

We obtained chart reviews and parent surveys for 75 autistic children to understand better how they, and other children with uneven or unusual behavioral development, are identified and diagnosed. Our goal was to determine when parents became concerned about developmental delay, what concerns they expressed, to whom they expressed them, when evaluations were made, what kinds of evaluations were carried out, and which diagnostic models were most effective. We found that, most often, parents expressed their initial concerns to pediatricians, noting both language and social delays by the time their child was 1 1/2 years old; they began diagnostic evaluations when their child was around 2 1/2 years old, and received diagnoses of autism at around 4 1/2 years. These results are discussed in terms of the role of the child's primary care physician in improving early identification, and placement into early intervention programs. The relationship between problems in the diagnosis of autism and other developmental disabilities is considered.

Adolescent↗