Chromosomal and biochemical screening on mentally retarded school children in Taiwan

Wuu, Kuang-Dong; Chiu, Pao-Chin; Li, Shuan‐Yow; Chen, Jia-Yuh; Chao, Mei-Chyn; Ko, Fang-Jong; Wang, Tso‐Ren; Hsiao, Kwang‐Jen

doi:10.1007/bf01910545

Cited by 15 publications

(13 citation statements)

References 16 publications

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“…Various surveys have been carried out in the past to karyotype patients with ID (Wuu et al 1991;Matilainen et al 1995;Li et al 1998). The frequency of chromosomal abnormalities in these studies varied greatly depending on the methods of screening sample size and subject preselection.…”

Section: Discussionmentioning

confidence: 99%

An epidemiological and aetiological study of children with intellectual disability in Taiwan

Hou

Wang

Chuang

1998

J intellect Disabil Res

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A large-scale cytogenetic study of the causes of intellectual disability (ID) in children from special schools and institutions was made in Taiwan between 1991 and 1996. The screening methods and the identification of subjects with ID consisted of both clinical evaluation (i.e. photographs, questionnaires on family, pre-, peri- and postnatal history, and hospital records, including IQ) and further laboratory studies for diagnosis (i.e. standard chromosome analysis, and if indicated, high-resolution banding, cytogenetic fragile-X study or molecular techniques). A total of 11,892 patients were enrolled in this study. After excluding the acquired causes of ID, such as infections and the sequelae of brain insults, or the well-known single-gene disorders and other multifactorial diseases, 4372 (36.8%) cumulative cases were recruited for karyotyping studies according to their phenotypes and medical records. Abnormal karyotypes were noted in 1889 children (43.2% of all selected children). Thus, the overall incidence of chromosomal aberrations in subjects with ID was estimated as 15.9%. Down's syndrome, the most common cause of ID, accounted for 82.4% of all patients with abnormal karyotypes. The causes of ID were considered to be prenatal in 55.2% (n = 6564) of cases, perinatal in 9.5% (n = 1130), postnatal in 3.3% (n = 392) and unknown in 32.0% (n = 3805) of cases. Two large groups were classified: (1) serious ID (37%), including profound, severe and moderate categories; and (2) mild ID (63%). The causes (pre-, peri- and postnatal, and unknown) in these two populations were: 70%, 10.5%, 5.4% and 14.1%, and 46.5%, 8.9%, 2.1% and 42.5%, respectively. Genetic causes accounted for 38.5% (n = 4578) of all cases in this study, including 1557 with Down's syndrome, 233 with fragile-X syndrome, 199 with other various chromosomal abnormalities (i.e. unbalanced translocation, supernumerary markers and structural rearrangements), 238 with a defined or presumed single-gene defect, and 98 with a recognized contiguous gene syndrome (Prader-Willi, 56; Angelman, 34; Williams, 5; and Kallmann, 3); 2120 cases had familial ID. Multiple anomalies of undefined pattern, but without chromosomal aberration, infantile autism, ID of normal phenotype or family history, were of the other categories. Patients with a single-gene disorder or chromosomal aberration, especially those with unbalanced translocated or rearranged chromosomes, had genetic counselling and family studies. Pre-screening with photographs and questionnaires may give a better costbenefit than blind mass cytogenetic studies for each individual with ID.

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Section: Discussionmentioning

confidence: 99%

An epidemiological and aetiological study of children with intellectual disability in Taiwan

Hou

Wang

Chuang

1998

J intellect Disabil Res

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“…In children with developmental delay or retardation, the prevalence of identified metabolic disorders generally is low, ranging from approximately 0-5% [Carson and Neill, 1962; Abramowiez and Richardson, 1975;Hunter et al, 1980;Opitz et al, 1982;Wuu et al, 1991; Majnemer and Shevel, 1995;Allen and Taylor, 1996]. Because of the nature of these series, it is often not possible to analyze critically the indication for, or yield of, metabolic testing in various circumstances.…”

Section: Metabolic Testingmentioning

confidence: 95%

Evaluation of mental retardation: Recommendations of a consensus conference

et al. 1997

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A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with mental retardation. Although no uniform protocol replaces individual clinician judgement, the consensus recommendations were as follows: 1. The individual with mental retardation, the family, and medical care providers benefit from a focused clinical and laboratory evaluation aimed at establishing causation and in providing counseling, prognosis, recurrence risks, and guidelines for management. 2. Essential elements of the evaluation include a three-generation pedigree: pre-, peri-, and post-natal history, complete physical examination focused on the presence of minor anomalies, neurologic examination, and assessment of the behavioral phenotype. 3. Selective laboratory testing should, in most patients, include a banded karyotype. Fragile X testing should be strongly considered in both males and females with unexplained mental retardation, especially in the presence of a positive family history, a consistent physical and behavioral phenotype and absence of major structural abnormalities. Metabolic testing should be initialed in the presence of suggestive clinical and physical findings. Neuroimaging should be considered in patients without a known diagnosis especially in the presence of neurologic symptoms, cranial contour abnormalities, microcephaly, or macrocephaly. In most situations MRI is the testing modality of choice. 4. Sequential evaluation of the patient, occasionally over several years, is often necessary for diagnosis, allowing for delineation of the physical and behavioral phenotype, a logical approach to ancillary testing and appropriate prognostic and reproductive counseling.

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“…However, according to existing data, the level of thyroxine and triiodothyronine in patients with PKU is normal (Hsiao et al, 1989). During research carried out on mentally retarded school children in Taiwan, only 0.56% of PKU cases were found to be a breakdown in the functioning of the thyroid gland observed (Wuu et al, 1991). A study of the functioning of the thyroid gland in adult PKU patients did not reveal significant abnormalities (Stewart, 1976;Pacy et al, 1994).…”

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confidence: 99%

Some morphological changes in the rat thyroid gland during experimental hyperphenylalaninemia

Usenko¹,

Kornilovskaya²,

Lizogubov³

et al. 1997

Anat. Rec.

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Background: Little is known about the effect of phenylketonuria on the thyroid gland. In the present study, this problem was investigated by using a defined experimental model of hyperphenylalaninemia (HPA). Methods The experimental group was subjected to an HPA regimen (Matsuo and Hommes. 1988. Neurochem. Res., 13:867‐870) from the 5th day of postnatal development. The pups were decapitated on the 7th, 14th, 21st, 28th, and 35th days. The thyroid glands were fixed in Bouin's fluid and routinely embedded in paraffin. The staining techniques used were Mallory‐Slinchenko's method, toluidin blue, silver impregnation of the basement membrane, immunohistochemical staining of the proliferating cell nuclear antigen (PCNA), and neuron‐specific enolase (NSE). Results The size of the follicles was less than that in the control group. There were no substantial changes in the epitheliomer structures. In almost all of the treated groups, a reduction in the number of PCNA+, NSE+, and mast cells was observed until the 28th day. On the 28th day of HPA, the level of mast cell degranulation was higher (61%) than that in the control group. On the 35th day, these parameters began to reach normal levels. From the 28th day, degenerative changes in the thyroid glands of treated animals were observed in the NSE+ cells. Conclusions The HPA condition mainly has an influence on the number and structure of the NSE+ cells of the thyroid gland. One may assume that under HPA the increase in mast cell degranulation plays a significant role in the normalisation of the parameter of the thyroid gland. Anat. Rec. 248:251‐258, 1997. © 1997 Wiley‐Liss, Inc.

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Chromosomal and biochemical screening on mentally retarded school children in Taiwan

Cited by 15 publications

References 16 publications

An epidemiological and aetiological study of children with intellectual disability in Taiwan

An epidemiological and aetiological study of children with intellectual disability in Taiwan

Evaluation of mental retardation: Recommendations of a consensus conference

Some morphological changes in the rat thyroid gland during experimental hyperphenylalaninemia

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