Autism and developmental delay

Objective This study improves the knowledge of early autistic symptomatology and research concerning (i) the significant differences in the behaviors of children with autistic disorder (AD) and children with a developmental delay (DD), and (ii) the influence of the cognitive delay on symptomatology. Method Two groups of 20 young children (7–42 months) were compared: children with AD, and those with DD. The groups were paired by chronological and developmental age. The comparison was extended to four subgroups composed according to age (younger and older children—<24 months, >24 months) and to the global development quotient (GDQ) (the more and less delayed). Each child was evaluated with the Infant Behavior Summarized Evaluation scale (IBSE). Results For the younger AD children, significant differences affected social communication and their adaptation to the environment (intolerance to frustration, resistance to change). For the older children (>24 months), this study showed the rapid progression of the number of distinctive signs between AD and DD children according to age and/or developmental level. Conclusions Cognitive delay has an important influence on the symptomatology at the moment of initial recognition of an autistic syndrome. This study is a complement for the fuller understanding of the nature and early diagnosis of disorders specific to autism at the earliest phases of development.     

Over-inhibition: a model for developmental intellectual disability

Developmental intellectual disability (DID) is a daunting societal problem. Although tremendous progress has been made in defining the genetic causes of DID, therapeutic strategies remain limited. In particular, there is a marked absence of a unified approach to treating cognitive impairments associated with DID. Here, we suggest that the brain in many DID-related disorders is subject to a basic imbalance in neuronal activity, with an increased contribution of inhibition to neural circuits. This over-inhibition, in turn, is predicted to lead to deficits in synaptic plasticity and learning and memory. We further discuss possibilities for pharmacological intervention in DID, focusing on the concept of drug-induced 'therapeutic neuroadaptation' as a means of stably enhancing constitutive circuit excitability and cognition over time.     

Autism and the pervasive developmental disorders

Our understanding of childhood autism and the related pervasive developmental disorders continues to advance in many areas. Nevertheless, the heterogeneity of phenotypic expression presents many challenges, not least to efforts to ascertain the prevalence of the disorders. There is now wide agreement on, and reliable application of, the diagnostic criteria for childhood autism, but there is less agreement on and less reliable application of the criteria for the related disorders atypical autism, pervasive developmental disorder-unspecified and Asperger's syndrome. Evidence about genetic associations indicates that several genes are involved in creating susceptibility to the disorder, and the first steps to identify susceptibility loci have begun. Neuroanatomical models have yet to receive consistent support but early signs of promising advances have been made in pharmacological interventions, and adequate evaluation of behavioural intervention programmes is now underway.     

Autism and related behaviours

Childhood autism is conceptualized as a behavioural syndrome with several different aetiologies. Its prevalence is estimated at about one in every thousand children born. The male:female ratio is considerably higher than in the general population, but possibly not as high as 3–4:1 (as has been suggested for almost 50 years in the literature). A number of specific medical conditions are associated with autism and a comprehensive medical work-up is required in all cases with pervasive autistic symptomatology. Genetic factors contribute to the development of autism in some cases. Recent neurobiological and psychological studies contribute to a concept of the autistic syndrome as but one of several different syndromes characterized by impaired empathy skills.     

Deinstitutionalization of people with developmental disability

Studies of deinstitutionalization of people with developmental disability are reviewed. Positive effects on the skills and behaviour, level of activity and social interaction and the general quality of life of relocated subjects have been generally obtained in these studies. In particular, an association has been demonstrated between normalization of the environment and improvements in adaptive behaviour. The outcome for those with severe maladaptive behaviours and for profoundly multiply disabled people is less positive, but there is some evidence that under certain conditions they too can show improvements in their functioning when transferred to community-supported residences. The relevance of these findings for the current debate on deinstitutionalization of developmentally disabled people in Australia is discussed.     

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability

PURPOSE OF REVIEW: The review addresses the recent discovery of large-scale copy number variations in the human genome and advances in microarray technology which together have changed the clinical genetic diagnostic approach for children with global developmental delay. RECENT FINDINGS: Several publications in the last three years evaluate the diagnostic rate of array comparative genomic hybridization (aCGH) in the setting of global developmental delay; to date, the rate of etiologic diagnosis ranges from 4.8% to 20%, a potential doubling of the rate of diagnosis prior to the application of this technique. SUMMARY: Large-scale copy number variations in the human genome leading to gene dosage imbalances comprise approximately 12% of the entire genome and some 10% of all known genes. Molecular testing for chromosome imbalances has changed with the application of array comparative genomic hybridization. Recent publications suggest a doubling of the rate of diagnosis of patients with genome copy number abnormalities as the cause of developmental delay. The use of array comparative genomic hybridization is replacing the use of fluorescent in-situ hybridization techniques for the child with idiopathic global developmental delay or intellectual disability.     

Timing of first dental checkup for newly Medicaid-enrolled children with an intellectual or developmental disability

We compared the extent to which having an intellectual or developmental disability was associated with rates at which Iowa Medicaid-enrolled children ages 3 to 8 had first dental checkups after an initial dental examination. We hypothesized that these children would have later first dental checkups than would children without an intellectual or developmental disability. Findings suggest no significant difference in the time to first dental checkup for children by intellectual or developmental disability status. Those who took over 12 months to see a dentist for their initial dental examination were 1.68 times as likely to have an earlier first dental checkup as children whose initial dental examination occurred within 4 months of being enrolled. Results suggest that having an intellectual or developmental disability is not associated with later first dental checkups for this population.     

Sleep disturbance in patients with developmental disability

Many patients with developmental disabilities exhibit various types of sleep disturbance. However, we have no idea of a specific approach to relieve the symptoms on sleep disturbance, although recent basic neuroscience has provided many novel findings on the neuronal mechanisms of the sleep-wakefulness cycle. In this brief review, a flip-flop circuit was introduced to explain neuronal mechanisms of the abrupt change between sleep and wakefulness. The rate of atonia during non-REM sleep was also introduced, as this index may useful for assessing the cholinoaminergic balance of the central nervous system. Sleep hygiene was also based on basic sleep-wakefulness mechanisms. To maintain sleep hygiene is a fundamental approach caring for patients with sleep disturbance, and specific approaches such as medication and treatment of sleep disordered breathing should also be based on the basic mechanisms of the sleep-wakefulness cycle. It was emphasized that effective intervention should only occur after the careful assessment of neuronal background of each patient.     

Secondary conditions in people with developmental disability

The authors investigated secondary conditions in people with developmental disabilities in terms of (a) the average number of conditions experienced and overall health and independence, (b) their degree and nature, and (c) gender differences. Information was obtained by a questionnaire completed by the caregivers for 659 people with developmental disabilities. Participants experienced an average of 11.3 secondary conditions. Secondary conditions causing significant limitations were reading difficulties, communication, physical fitness-conditioning, personal hygiene-appearance, weight, dental and oral hygiene, and memory problems. Some gender differences emerged in overall health scores and limitations due to secondary conditions.     

Health issues for adults with developmental disability

The aim of this paper is to review recent literature on health issues for adults with developmental disability and reflect on how this research informs service provision, future research work, and social and health policy. Studies based on mortality data are most likely to aim at identifying individuals most at risk of premature death, and some researchers argue that health-oriented service systems appear ill-equipped to address the needs of the at risk groups. Morbidity studies highlight specific health concerns found in this population and commonly report high rates of untreated, yet treatable, conditions. The emerging literature on the behavioral determinants of health suggests risk of preventable morbidity and mortality because of the lack of health-promoting behaviors, particularly in relation to diet and physical activity. Of particular interest in this literature is the affect of living arrangements on health promoting activities. This paper concludes that future directions in health research for adults with developmental disability will be concerned with the complexity of the interactions between biology, pathology, and behavioral and environmental determinants. More use of self-reported health studies is suggested, as well as further exploration of effective strategies of health promotion and health promoting decision-making and self-determination among this population.     

Factors related to psychiatric disability

Summary In order to evaluate the relationship between psychiatric diagnosis and disability, information obtained from the evaluation of 55 applicants for SSI psychiatric disability was reviewed. The Global Assessment Scale was used as an outcome variable. Signicifacnt associations were found with psychiatric diagnosis (p<0.05), marital status (p< 0.05), and race (p<0.05). The lowest mean scores for diagnosis were: organic brain syndrome and schizophrenia; for marital status, never married; and for race, Hispanic. (It appears the Hispanic low scores were due to a lack of ability to speak English.) No significant associations were found with sex, age, or education.     

The clinical effectiveness of a multisensory therapy on clients with developmental disability

Many clients in Hong Kong with developmental disabilities stay in mental hospitals because of mental disorders and behavioural problems. There is a need to identify strategies that promote psychological well-being and reduce problem behaviours in this group of clients. This study evaluates the impact of multisensory therapy on participants' emotional state, level of relaxation, challenging behaviour, stereotypic self-stimulating behaviour (SSB) and adaptive behaviour (AB). Using an experimental design, 89 participants were recruited from a developmental disability unit in a hospital in Hong Kong and randomly assigned to either an experimental (n = 48) or a control group (n = 41). Multisensory therapy sessions (n = 36) were conducted with experimental group and activity sessions (n = 36) were conducted with controls for 12 weeks. Multisensory therapy promoted participants' positive emotions and relaxation. However, there was no evidence that multisensory therapy was superior to activity therapy in reducing aggressive behaviour and stereotypic self-stimulating behaviour or promoting adaptive behaviour. The key variables that influence clients' behaviours in the multisensory therapy may be related to the relationship with the carer, constant environment, relaxation and freedom from demands rather than sensory input. Multisensory therapy could be used to provide leisure and promote psychological well-being, rather than for reducing problem behaviour.     

Gastrointestinal and nutritional problems in severe developmental disability

The aim of this study was to describe the experience of 452 children and adults with a severe developmental disability who presented to a multidisciplinary clinic with swallowing, nutritional, and gastrointestinal problems. Data were obtained by chart review. Two hundred and ninety-four children (age range 7 mo-19 y, 173 males, 121 females) and 158 adults (age range 18-53 y; 90 males, 68 females) were assessed over 5 years. One hundred and eighty-two children and 86 adults had cerebral palsy. Approximately 90% were wheelchair dependent and totally dependent on caregivers for feeding; 60% had epilepsy. Pulmonary aspiration was identified by oesophageal videofluoroscopy in 41% of 174 children and 47% of 34 adults. Chronic oesophagitis and Helicobacter pylori were found in 57% of 182 children and 76% of 66 adults undergoing endoscopy. Chronic suppurative lung disease was identified by computerized axial tomography in 94% of 62 children and all six adults studied. Most patients improved with simple interventions. However, gastrostomy was recommended in 140 children and performed in 91, and in 10 adults but performed in seven, whereas fundoplication was recommended in 111 children and performed in 74, and in six adults but performed in two. In conclusion, chronic oesophagitis, pulmonary aspiration, and chronic lung disease were identified in many patients with a severe developmental disability.