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Results for “developmental disorders”

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At least 631 records · Page 35Linked to original sources
PubMed1981

Some perspectives on intervention strategies for persons with developmental disorders.

We present a view of language that crosses modal considerations (e.g., speech vs. augmentative systems) and places language within an interaction framework. We emphasize the need to consider normal social, cognitive, and linguistic development in selecting program guidelines for developmentally delayed persons. We address the child's linguistic code not as a set of phonetic, syntactic, and semantic features that can be trained in isolation, but as a means by which he can exercise the various pragmatic uses of communication. In effect, our interest has thus expanded from the child alone to the child as one member of a communicating dyad. Programming in the areas of mother's verbal input, expanding children's language skills, training in augmentative systems--all reflect an overriding objective of optimizing the language-user's ability to successfully participate in interactions with other persons in his/her environment.

Humans↗
PubMedDate not supplied

Assessing and diagnosing developmental disorders that are not evident at birth: parental evaluations of intake procedures.

Studies of parental satisfaction with the way in which diagnostic information is imparted have generally focused on conditions that are evident from birth. Diagnostic disclosure for disorders in which the onset is later, and less readily identifiable, has received less attention. The present study investigated parents' views of diagnostic procedures for children whose developmental delays only became apparent as they grew older. The degree of satisfaction was related to the type of diagnosis given but 2 weeks after the assessment 87% of parents described themselves as being very or fairly satisfied. However, levels of satisfaction were lower at a later follow-up than they had been initially. Moreover, several specific aspects of the assessment fell short of the ideal model and parents offered a number of practical and cost-effective suggestions as to how these could be remedied. These ranged from ways in which pre-assessment procedures could be made more useful, how diagnostic information should be presented and how the physical setting could be improved.

Adolescent↗
PubMed1994

Non-Mendelian transmission in a human developmental disorder: split hand/split foot.

The study of Mendelian disorders that do not meet some Mendelian expectations has led to an increased understanding of such previously obscure genetic phenomena as anticipation. Split hand/split foot (SHSF), a human developmental malformation, demonstrates such distinctive genetic features as reduced penetrance and variable expressivity. In this study, new pedigrees with defined ascertainment confirm the existence of non-Mendelian transmission characterized by the overtransmission of SHSF from affected fathers to sons.

Fathers↗
PubMed1998

Delayed language onset as a predictor of clinical symptoms in pervasive developmental disorders.

DSM-IV states that Asperger Disorder may be distinguished from Autistic Disorder by a lack of a delay in early language development. The aim of this study was to establish whether the presence or absence of early language delay would predict autistic symptomatology in children diagnosed with a PDD/autism spectrum disorder. Forty-six language-delayed and 62 normal language onset individuals (M age 11 years) were compared on ICD-10 research criteria and DSM-IV criteria, receptive language, and developmental history variables. Retrospective data were also obtained to determine whether language onset predicted autism symptomatology when young (< 6 years). We found that early language delay predicts more autistic symptomatology when young, but not at an older age. Early language delay is also associated with developmental motor milestone delays and lower receptive language abilities. The results question the use of early language delay as a valid discriminating variable between PDD subgroups.

Adolescent↗
PubMed2002

Characteristics of early rhythmic behaviors in children at risk for developmental disorders.

OBJECTIVE: Abnormal stereotyped behaviors are a significant problem for many individuals with mental retardation or mental illness. To increase understanding of the development of abnormal stereotyped behaviors, the authors investigated the early rhythmic behaviors of children at increased risk for developmental delays. METHOD: Rhythmic behaviors in 13-month-old children born prematurely and in children born at term were coded from laboratory videotapes of structured interaction segments. RESULTS: While few differences in early rhythmic behaviors were found between children born prematurely and control children, some relationships with cognitive outcomes at 2 years were identified after controlling for family socioeconomic status. However, the direction of the association was dependent on the specific coded situation. No differences in the durations of rhythmic behavior bouts were found between the groups. CONCLUSIONS: The findings indicate that even topographically similar behaviors have different functional significance in different settings. In at least some settings, rhythmic behaviors in infancy and early childhood seem to facilitate development. The fact that specific forms of rhythmic behaviors did not differ on the basis of prematurity status suggests that abnormal stereotyped behaviors have an onset later than 13 months.

Brain Damage, Chronic↗
PubMed2000

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

The evaluation of mental retardation is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Several genetic disorders have been identified to have certain behavioral characteristics, such as Williams syndrome, Smith-Magenis syndrome, and the velocardiofacial syndrome (VCFS). The deletion affecting the chromosome 22q in the most distal band (22q13) appears to define yet another neurobehavioral phenotype. In addition to our report, there are about 17 other cases published of this particular deletion syndrome. We describe three children who share features of developmental delay and pervasive behaviors in addition to normal to advanced growth patterns. Results of cytogenetic analysis suggest that the 3 patients share a deletion affecting the terminal 22q13 region. Two were found to have a cryptic deletion, in the third it was detected by conventional cytogenetics. The cryptic deletions were demonstrated using fluorescent in situ hybridization (FISH), where the control probe for the DiGeorge/VCFS region was deleted. While there remain gaps in our understanding of this particular deletion syndrome, we propose that patients with normal or advanced growth, significantly delayed speech, deviant development and pervasive behaviors, with minor facial dysmorphism, be screened for this deletion.

Autistic Disorder↗
PubMed2003

The impact of intrauterine exposure versus postnatal environment in neurodevelopmental toxicity: long-term neurobehavioral studies in children at risk for developmental disorders.

Various investigators have shown that enriched environment may positively affect the early brain development of experimental animals. Environment was also shown to positively affect the development of young children born to mothers of low socio-economic class (low SES). It is unknown, however, to what extent can an enriched environment improve the developmental outcome of children born with slight brain damage. We studied the development of preschool and early school age children born to heroin dependent parents raised at home or adopted in comparison to children suffering only from environmental deprivation (low parental SES) and to controls. They were examined by several professionals, using standard, age appropriate, neurological and psychological tests. Similar evaluations were performed on a group of early school age children born to mothers with pregestational or with gestational diabetes and on a group of children born prematurely, with a birth weight of less than 1500 g using various developmental tests. Young children born to heroin dependent mothers and fathers raised at home and children of low SES had, in comparison to controls, lower intellectual skills and a higher rate of inattention. This persisted at school age, too. Children born to heroin dependent mothers adopted at a young age and hence being raised in a good environment had normal intellectual function but a high rate of inattention and behavioral problems. We also examined the school age children for possible presence of ADHD and found a high rate of ADHD among all children born to heroin dependent parents including those adopted, as well as in the children with low parental SES. Similar findings regarding the strong positive influence of an enriched environment were observed in children born to diabetic mothers, where the intellectual abilities of the children were directly related with parental education. The cognitive abilities of the children born prematurely were also strongly associated with parental education and not with the degree of perinatal complications. In conclusion, in all groups of children at high risk for developmental problems was found that the environment has a strong influence on their intellectual abilities but not on motor skills or attention span. A good environment (high parental SES) may significantly improve the outcome.

Child↗
PubMed2005

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

X-linked cyclin-dependent kinase-like 5 (CDKL5 or STK9) has recently been implicated in atypical Rett and X-linked West syndromes, severe neurological disorders associated with mental retardation, loss of communication and motor skills and infantile spasms and seizures in predominantly females. Besides CDKL5, these disease phenotypes are also linked to mutations in the MECP2 and ARX genes. Here, we have expressed and characterized CDKL5 and its mutant forms. CDKL5 is a 118 kDa protein that is widely distributed in all tissues, with highest levels in brain, thymus and testes. Whole mount embryo staining reveals CDKL5 to be ubiquitous. Within cells, CDKL5 is localized primarily in the nucleus. Removal of the C-terminal domain increases CDKL5 expression, enhances autophosphorylation activity and causes perinuclear localization, indicating that the C-terminus regulates CDKL5 function. Although we detect MeCP2 but not ARX binding to CDKL5, our results suggest that neither of these proteins are direct substrates of the CDKL5 kinase. Finally, the CDKL5 mutations associated with the disease phenotype cause loss of kinase activity as assessed by autophosphorylation. These results suggest that inactivation of the CDKL5 kinase can lead to severe neurodevelopmental disorders.

Amino Acid Motifs↗
PubMed1982

Thyroid function in developmental disorders.

The relationships between catecholamines and thyroid state are considered from clinical and molecular perspectives. The effects of thyroid hormone on adrenergic systems are mediated by altered receptor and post-receptor function. Clinical symptoms of major childhood neuropsychiatric disorders, as well as related biological measures, may be influenced by thyroid hormone regulation.

Brain↗