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At least 667 records · Page 37Linked to original sources
PubMed1986

[Early stimulation and parent guidance in genetically-induced developmental disorders--guidelines and recommendations].

When genetically based impairments cannot be prevented by early-enough genetic counselling, parent guidance and early services are urgently needed. Understanding the parents' psychoemotional situation, tactfulness, and easily understood language are important premises in such counselling. For early provision of services to be effective, close cooperation needs to be ensured between physicians, therapists, educators and social workers. Their common objective is to reduce the extent of disability as much as possible, and to achieve conditions conducive to integration. In progressive conditions, the aim is to put off the onset of complete helplessness and to maintain the child's quality of life at as high a level as possible.

Child, Preschool↗
PubMed1989

[Prevention of fetal and neonatal developmental disorders in diabetes mellitus].

The experience of follow-up and treatment of over 500 pregnant diabetic women and their newborns is summarised. The incidence of severe complications of pregnancy and labour is shown to rise significantly in this condition, the fetal development and neonatal status being impaired. The effects of the genetic factors, hypoxia, ketoacidosis, metabolic and hormonal errors, complicated pregnancy and labour on the perinatal disease development are defined. A comparative evaluation of various diagnostic techniques for early detection of impaired fetal and neonatal status is presented. An effective complex of organizational, therapeutic, preventive, and rehabilitation activities serve to provide for antenatal care and birth of a healthy infant in a diabetic mother.

Developmental Disabilities↗
PubMed1999

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

Optic nerve coloboma combined with renal disease, also called renal-coloboma syndrome ( # 120330 in McKusick's Mendelian Inheritance in Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal dominant mutations in the PAX2 gene. Although renal-coloboma syndrome involves both ocular and renal anomalies, some patients are affected with vesico-ureteral reflux (VUR), high frequency hearing loss, central nervous system (CNS) anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development. We review here the clinical features of patients with renal-coloboma syndrome and PAX2 mutation. We also review the PAX2 mutations that have been reported to date, and discuss the possible effect of PAX2 mutations on normal development.

Abnormalities, Multiple↗
PubMed1998

Cancer as a complex developmental disorder--nineteenth Cornelius P. Rhoads Memorial Award Lecture.

The processes of differentiation and tumorigenesis have been long thought to be connected. The recent identification of Patched, a gene essential for Drosophila embryonic development, as a tumor suppressor has focused attention on the concept that tumorigenesis involves abnormalities of development. In fact, a large number of genes in the signalling pathway of the Patched gene are either tumor suppressors or oncogenes. This supports the concept that growth control is a critical requirement of differentiation, and that aberrant cellular development can contribute to malignancy. Whereas the identification of genes that result in dominantly inherited cancer syndromes has played a vital role in understanding cancer, the vast majority of "sporadic" cancers have properties of a complex genetic disease. Approaches to identify common alleles in cancer-associated genes promise to increase our understanding of the disease and aid the rational design of preventative and therapeutic strategies.

Animals↗
PubMed1996

Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders.

Sib, twin, and family studies have shown that a genetic cause exists in many cases of autism, with a portion of cases associated with a fragile X chromosome. Three folate-sensitive fragile sites in the Xq27-->Xq28 region have been cloned and found to have polymorphic trinucleotide repeats at the respective sites; these repeats are amplified and methylated in individuals who are positive for the different fragile sites. We have tested affected boys and their mothers from 19 families with two autistic/PDD boys for amplification and/or instability of the triplet repeats at these loci and concordance of inheritance of alleles by affected brothers. In all cases, the triplet repeat numbers were within the normal range, with no individuals having expanded or premutation-size alleles. For each locus, there was no evidence for an increased frequency of concordance, indicating that mutations within these genes are unlikely to be responsible for the autistic/PDD phenotypes in the affected boys. Thus, we think it is important to retest those autistic individuals who were cytogenetically positive for a fragile X chromosome, particularly cases where there is no family history of the fragile X syndrome, using the more accurate DNA-based testing procedures.

Autistic Disorder↗
PubMed1988

The use of ultrasound scanning in the management of developmental disorders of the hip.

Ultrasound was used, together with clinical examination, to help in the diagnosis and to evaluate the treatment of 48 babies with congenital disorders of the hip. The femoral head, and its relation to the acetabulum, can be demonstrated before it becomes visible on radiographs. Ionising radiation is avoided. Ultrasound scanning can be used to visualise the repositioning of the femoral head. It is also possible to examine babies on an abduction frame.

Hip Dislocation, Congenital↗
PubMed1982

Congenital "histiocytoid" cardiomyopathy: evidence suggesting a developmental disorder of the Purkinje cell system of the heart.

The so-called "histiocytoid cardiomyopathy" is an unusual cardiac disorder of infancy and childhood, characterized by the presence of numerous foamy, lipid-containing cells between the endocardium and the striated myocardial cells of the left ventricle and the interventricular septum. The disease usually affects females, the clinical picture being dominated by severe disturbances of conduction. The original designations of the disorder stem from the morphological resemblance of the foamy cells to lipid-laden histiocytes. However, subsequent investigations have shown these cells to contain myofibrils interposed with Z lines. It has, therefore, been suspected that the leading cell population might be related to the myocardium. Using a histochemical method for the demonstration of cholinesterase activity in the foamy cells, we present evidence that "histiocytoid" cardiomyopathy may in fact correspond to a maldevelopment of the Purkinje cell system of the heart.

Cardiomyopathies↗
PubMed1987

Autism and pervasive developmental disorders: concepts and diagnostic issues.

The purpose of this report is to bring up to date available information on the defining features and diagnostic issues relating to autism and related disorders. We review the validity of the syndrome based on our last review (Rutter, 1978; Schopler, 1978). Subsequent data have produced refinement in our understanding of both diagnostic criteria and the nature of the basic deficit. Controversies over both the boundaries and the heterogeneity within the autism syndrome are evaluated according to available evidence. Diagnostic rating instruments for expediting systematic sample selection are critiqued, and leads for new research directions are suggested.

Autistic Disorder↗
PubMed1977

Sign language and multisensory input training of children with communication and related developmental disorders.

This report deals with the preliminary findings of a research project on simultaneous communication and multisensory input in the treatment of six autistic and communication disordered children. The children, aged 5 to 12, were taught manually signed English and speech using a multisensory-intrusion approach. The hypothesis was that such a technique would serve to alleviate the children's difficulties in information processing, organization of experience, and affect. The dependent measures were behavioral ratings derived from both structured (teaching) and unstructured (free play) sessions. The results indicate that the children manifested a consistent acquisition of sign lanuage, which in some cases transferred into verbal communication skills. Moreover, statistical analyses of some of the observed socioaffective behaviors (i.e., nonsolitary play, interaction with peers and adults, exploration, and detachment) revealed tendencies supportive of the hypothesis. The variability of the data preclude any categorical statement in relation to the hypothesis. However, the preliminary results strongly support the continuation of the study.

Auditory Perception↗