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At least 721 records · Page 40Linked to original sources
PubMed2001

The Modified Checklist for Autism in Toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders.

Autism, a severe disorder of development, is difficult to detect in very young children. However, children who receive early intervention have improved long-term prognoses. The Modified Checklist for Autism in Toddlers (M-CHAT), consisting of 23 yes/no items, was used to screen 1,293 children. Of the 58 children given a diagnostic/developmental evaluation, 39 were diagnosed with a disorder on the autism spectrum. Six items pertaining to social relatedness and communication were found to have the best discriminability between children diagnosed with and without autism/PDD. Cutoff scores were created for the best items and the total checklist. Results indicate that the M-CHAT is a promising instrument for the early detection of autism.

Autistic Disorder↗
PubMed1998

Genetic counseling in autism and pervasive developmental disorders.

With increasing awareness of the importance of genetic influences on autism, there is now a demand from families with an affected member for advice regarding their risk of having an autistic child. Research evidence currently available makes it possible to give families empirical recurrence risks. It is desirable that this information is imparted by those with joint expertise in the diagnosis and treatment of autism and in the genetics of complex modes of inheritance. A protocol for genetic counseling is described, along with the key elements that influence the recurrence risks given to individual couples. There is a need to give information regarding recurrence risks not only for autism but also for the broader phenotype. In addition, couples may have other issues they wish to discuss, which may influence their reproductive decisions.

Autistic Disorder↗
PubMed2004

Comorbidity in psychiatric and chronic physical disease: autocognitive developmental disorders of structured psychosocial stress.

Applying a 'necessary condition' communication theory formalism roughly similar to that of Dretske, but focused entirely on the statistical properties of long sequences of signals emitted by the interacting cognitive modules of human biology, we explore the regularities apparent in comorbid psychiatric and chronic physical disorders using an extension of recent perspectives on autoimmune disease. We find that structured psychosocial stress can literally write a distorted image of itself onto child development, resulting in a life course trajectory to characteristic forms of comorbid mind/body dysfunction affecting both dominant and subordinate populations within a pathogenic social hierarchy.

Chronic Disease↗
PubMed2005

Childhood solid tumours: a developmental disorder.

Several lines of evidence demonstrate that the biology, genetics and environment of childhood solid tumours (CSTs) sets them apart from adult solid tumours. The nature of the progenitor cells from which these tumours arise, and their immature tissue environment, allows CSTs to develop with fewer defects in cell regulatory processes than adult cancers. These differences could explain why CSTs are more susceptible to therapeutic intervention than adult tumours. How does the aetiology of these cancers differ from those occurring in adults and how might this affect the development of more effective therapies?

Cell Proliferation↗
PubMed1998

Carney complex and the familial lentiginosis syndromes: link to inherited neoplasias and developmental disorders, and genetic loci.

Lentigines, synonymous but not identical to freckles or ephelides, are common skin lesions. In a small number of patients, however, these lesions constitute part of genetic syndromes that are associated with inherited forms of neoplasias or other pathologic processes of the cardiovascular, endocrine, and gastrointestinal systems. The familial lentiginoses, as these syndromes are collectively known, include Carney complex, the LEOPARD and Peutz-Jeghers syndromes, and the newly described 'syndrome of arterial dissections with lentiginosis'; isolated, familial lentiginosis has also been described. In the majority of the reported kindreds with these syndromes, the lesions were inherited in an autosomal dominant manner. The specific genes that are responsible for these disorders have remained elusive, but the genetic loci of Carney complex and Peutz-Jeghers syndromes were recently identified on chromosomes 2p 16 and distal 19p, respectively. Cytogenetic studies of tumours from patients with Carney complex suggest that the gene responsible for most patients with this syndrome may not have a tumour suppression function. We suggest that the genes responsible for the lentiginosis syndromes are important regulators of melanocyte function, they participate in the pleiotropy of human pigmentation, and are involved in the function, growth and proliferation of neural crest and mesenchymal cells.

Diagnosis, Differential↗
PubMed2002

Mild generalized epilepsy and developmental disorder associated with large inv dup(15).

PURPOSE: Several studies attempted to clarify the genotype-phenotype correlations in patients with inverted duplication of chromosome 15 [inv dup(15)], which is usually characterized by severe mental retardation and epilepsy in individuals with large duplications including the Prader-Willi/Angelman region. We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including adult-onset epilepsy. This report may help to define the milder spectrum of the syndrome. METHODS: A 25-year-old girl with mild mental retardation had a 6-year history of absence seizures, with occasional head drop. Interictal EEG revealed diffuse spike-wave complexes. Epilepsy was well controlled by a combination of lamotrigine (LTG) and valproate (VPA). The other patient, a 27-year-old man with mild mental retardation, had a 5-year history of rare generalized tonic-clonic seizure during sleep, and frequent episodes of unresponsiveness, which appeared to be atypical absence seizures on video-EEG recordings. A combination of VPA and LTG led to a remarkable improvement, although no complete control. RESULTS: Molecular analysis revealed a large inv dup15 in both patients. CONCLUSIONS: The discrepancy between the mild phenotype and the severe chromosomal abnormality detected in these two patients further supports the notion that the site of breakpoint might be contributory to the inv dup(15) phenotype. Inv dup(15) should be considered in atypical cases of generalized epilepsy of adult onset without clear-cut etiology.

Adult↗
PubMed2006

[Doubling of the pinna, a rare branchial arch developmental disorder].

BACKGROUND: Auricular appendices are not unusual, but doubling of the pinna is rare. There is still a controversy if these are derivates from the first or the second branchial arch. PATIENT: The case of a 3 year old girl is described with doubling of the pinna and hemi facial atrophia. The second pinna was on third of the orthotop regular auricle. It seemed to come from the tragus anlage i. e. originating from the first otic hillock. RESULTS: The accessory pinna was resected, an aesthetic result could be achieved. CONCLUSION: Morphology and position of accessory pinnas arise again the question of the origin of the auricular hillocks. This case supports the opinion of Otto that the first hillock only belongs to the first branchial arch and the major part of the auricle is originating from the hillock 2-6 i. e. to the second branchial arch.

Age Factors↗
PubMed1990

Chapter V (F) of ICD-10: mental, behavioural and developmental disorders--introduction and overview.

The need for precise psychiatric diagnoses is indisputable, both for cooperation within the health service systems and for scientific purposes. Over the last few years there has been a revival of interest in psychiatric nosology. Despite new strategies and the results of numerous individual research efforts, no uniform and general satisfactory theory, and thus no classification of mental disorders, has been developed. After the Second World War, the WHO succeeded in introducing an internationally accepted diagnostic system, the ICD-classification. In 1980 the American Psychiatric Association (APA) introduced its DSM-III classification with explicit diagnostic criteria and rules. The ICD-10 has been in preparation since 1982, and will differ considerably from ICD-9: An alpha-numerical system of coding expands the possibilities for diagnoses. For the first time in the history of ICD operational diagnostic criteria and rules are being introduced. The new structure will permit adjustments without the need to completely change the entire classification. The WHO division of mental health is preparing a range of documents and instruments for various purposes; clinical descriptions and diagnostic guidelines for daily clinical use, a short version and the more detailed research criteria; a multiaxial coding is planned as well. The classification of the mental disorders is based on etiological considerations, as far as these are known, in particular in the case of organic disorders, disorders due to the use of psychoactive substances, and stress-related disorders. In other areas, a more non-theoretical and descriptive approach was chosen. As a major change the large "blocks" psychoses and neuroses have been abandoned.(ABSTRACT TRUNCATED AT 250 WORDS)

Behavior↗
PubMed1987

[Prenatal diagnosis of non-viable fetuses caused by developmental disorders--an indication for abortion for fetal reasons?].

Between October 1st 1983 and January 31st 1986 we diagnosed various anomalies on 116 foetuses at the Department of Obstetrics and Gynaecology, Klinikum Grosshadern, Munich. In 103 cases we made a correct diagnosis. This group of patients included 45 non-viable foetuses. Severe anomalies of the foetal central nervous system and lethal dwarfism were diagnosed correctly. On the other hand, antenatal diagnosis of bilateral nonfunctional kidneys and non-correctable cardiac malformations poses problems. We feel that in the case of a definitive prenatal diagnosis of an anomaly for which there is no known medical treatment and which is not compatible with life, the decision as to further procedure should be made at this stage. Before 24 weeks gestation, termination of pregnancy on foetal grounds should be discussed with the parents. Thereafter, preterm labour is preferable to the dangers of obstructed labour at term and should be conducted without foetal monitoring.

Abortion, Eugenic↗
PubMed2001

Prolactin levels in young children with pervasive developmental disorders during risperidone treatment.

Although hyperprolactinemia is a common side effect during risperidone treatment in adult patients, no information is available on young children. The aim of this study is to report on serum prolactin levels in 25 young autistic children (22 males and 3 females, age range 3.9-7 years, mean age 4.10 years) during treatment with risperidone (dosage range 0.25-0.90 mg/day, mean dosage 0.52 mg/day). Prolactin levels were measured at baseline and after 10 weeks of treatment. The clinical outcome measure used was the Clinical Global Impression-Improvement. Serum prolactin was 9.77 +/- 3.94 ng/mL at baseline and 25.92 +/- 13.9 ng/mL during the 10th week of treatment (p < 0.001). Six children (24%) showed prolactin levels lower than 15 ng/mL, which is the upper normal level; eight children (28%) had prolactin levels higher than two times the upper limit (30 ng/mL). Hyperprolactinemia did not show significant correlations with age, weight, or risperidone dosage. There was no relation with clinical outcome. Dose reduction of risperidone resulted in a decrease of prolactin levels. None of the children showed clinical signs of hyperprolactinemia. Given the paucity of available data on potential effects of long-term hyperprolactinemia, a monitoring of prolactin during treatment with risperidone and other typical and atypical antipsychotics may be warranted.

Age Factors↗
PubMed2000

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

The autosomal dominant disorders iris hypolasia (IH), iridogoniodysgenesis syndrome (IGDS) and Axenfeld-Rieger syndrome (ARS) are characterized by maldevelopment of the anterior segment of the eye associated with an increased risk of early-onset glaucoma. IH, IGDS and ARS are allelic disorders, as all three can result from mutations of the transcription factor PITX2. IH is the mildest of the three, whereas ARS exhibits the most severe ocular malformations. We hypothesize that varying amounts of residual PITX2 activity could underlie the severity of these phenotypes. Missense mutations of the PITX2 homeodomain identified in IH (Arg46Trp), IGDS (Arg31His) and ARS patients (Leu16Gln; Thr30Pro; Arg53Pro) were introduced into recombinant PITX2 cDNA by site-directed mutagenesis. PITX2 mutant proteins expressed in COS-7 cells were determined to be stable and localized to the nucleus; however, the Arg53Pro ARS mutant also displayed cytoplasmic staining. Our findings are consistent with the possibility of a novel nuclear localization signal (NLS) within helix 3 of the PITX2 homeodomain, homologous to the NLS of the related transcription factor PDX-1. Analysis of the five mutant PITX2 proteins by DNA-binding shifts and transactivation studies demonstrated reduced activity of the IH and IGDS mutant PITX2 proteins, with the IH mutant retaining the most activity in both studies, whereas the ARS mutant PITX2 proteins proved to be non-functional. In addition to providing insight into the etiological mechanism of IH, IGDS and ARS, these results are consistent with the hypothesis that mutant PITX2 proteins that retain partial function result in milder anterior segment aberrations.

Amino Acid Sequence↗