Urine amino and organic acids analysis in developmental delay or intellectual disability

Poplawski, NK; Harrison, J. R.; Norton, W. Anthony; Wiltshire, Esko; Fletcher, J.

doi:10.1046/j.1440-1754.2002.00032.x

Cited by 9 publications

(8 citation statements)

References 23 publications

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“…9 Nonetheless, homocystinuria, easily detected by elevated homocysteine serum levels, and urea cycle defects, revealed by hyperammonemia, may produce a mild phenotype, therefore homocysteine and ammonia serum levels could be included in initial exams. 60 Poplawski et al 68 proposed that urine metabolic screening of amino acids and organic acids should be included in the initial investigation of all children with isolated MR. They assessed 1,447 individuals with developmental delay without other clinical signs, and found inborn errors of metabolism in 16 of them (1.1%).…”

Section: How To Investigate Mental Retardationmentioning

confidence: 99%

Retardo mental

Vasconcelos¹

2004

J. Pediatr. (Rio J.)

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Section: How To Investigate Mental Retardationmentioning

confidence: 99%

Retardo mental

Vasconcelos¹

2004

J. Pediatr. (Rio J.)

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“…48 For patients with normal results from the previously mentioned analyses, it is possible to request fluorescence in situ hybridization (FISH) 49 which is an evaluation of the entire subtelomeric region. In the next step, if no abnormal data are identified, submicroscopic chromosomal disorders are evaluated.…”

Section: Search For Genetic Abnormalitiesmentioning

confidence: 99%

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis

Katz¹,

Lazcano‐Ponce²

2008

Salud pública Méx

108

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Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis.Salud Publica Mex 2008;50 suppl 2:S132-S141. AbstractEtiology and classification: Causal factors related with cognitive disability are multiples and can be classified as follows: Genetic, acquired (congenital and developmental), environmental and sociocultural. Likewise, in relation to the classification, cognitive disability has as a common denominator a subnormal intellectual functioning level; nevertheless, the extent to which an individual is unable to face the demands established by society for the individual's age group has brought about four degrees of severity: Mild, moderate, severe and profound. Diagnostic: The clinical history must put an emphasis on healthcare during the prenatal, perinatal and postnatal period and include the results of all previous studies, including a genealogical tree for at least three generations and an intentional search for family antecedents of mental delay, psychiatric illnesses and congenital abnormalities. The physical exam should focus on secondary abnormalities and congenital malformations, somatometric measurements and neurological and behavioral phenotype evaluations. If it is not feasible to establish a clinical diagnosis, it is necessary to conduct high-resolution cytogenetic studies in addition to metabolic clinical evaluations. In the next step, if no abnormal data are identified, submicroscopic chromosomal disorders are evaluated. Prognosis: Intellectual disability is not curable; and yet, the prognostic in general terms is good when using the emotional wellbeing of the individual as a parameter. Conclusions: Intellectual disability should be treated in a comprehensive manner. Nevertheless, currently, the fundamental task and perhaps the only one that applies is the detection of the limitation and abilities as a function ResumenEtiología y clasificación: múltiples factores causales están relacionados con la discapacidad cognoscitiva y pueden clasificarse de la siguiente manera: genéticos, adquiridos, (congénitos y de desarrollo), ambientales y socioculturales. Del mismo modo, en cuanto a la clasificación, la discapacidad cognoscitiva tiene como común denominador un nivel de funcionamiento intelectual por debajo de lo normal; sin embargo, la medida en que una persona es incapaz de afrontar las demandas establecidas por la sociedad para su grupo de edad ha dado origen a cuatro grados de severidad: ligera, moderada, severa y profunda. Diagnóstico: el historial clínico debe hacer énfasis en el cuidado de la salud durante el periodo prenatal, perinatal y postnatal e incluir los resultados de todos los estudios previos, incluyendo un árbol genealógico de al menos tres generaciones y una búsqueda intencional de antecedentes familiares de retraso mental, enfermedades psiquiátricas y anomalías congénitas. El examen físico debe concentrarse en anomalías secundarias y en malformaciones congénitas, mediciones somatométricas, y evaluaciones del fenotipo neurológico y ...

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“…Poplawski et al 68 propuseram que a triagem metabólica urinária de aminoácidos e ácidos orgânicos deveria fazer parte da investigação inicial de todas as crianças com RM isolado. Eles estudaram 1.447 indivíduos com atraso do desenvolvimento sem outros indícios clínicos e definiram um erro inato do metabolismo em 16 deles (1,1%).…”

Section: Como Investigar O Retardo Mentalunclassified

Mental retardation

Vasconcelos¹

2004

J Pediatr (Rio J)

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Objective: This paper describes recent advances in the neurobiology of mental retardation, emphasizing new diagnostic resources provided by cytogenetics, molecular testing, and neuroimaging.Sources of data: MEDLINE (January 2000 through October 2003), using the following key words: mental retardation, developmental disability, child, and adolescent. Search of the Pediatrics and New England Journal of Medicine websites using the key word mental retardation. The Online Mendelian Inheritance in Man (OMIM) database was searched for information on clinical genetics. Summary of the findings:In October 2003, the number of genetic syndromes associated with mental retardation reached 1,149. Considering the genetic or environmental and congenital or acquired causes of mental retardation, current diagnostic investigation is able to detect the etiology in 50 to 70% of cases.Conclusions: Diagnostic evaluation should follow a stepwise approach in order to make rational use of the expensive tools of cytogenetics, molecular biology, and neuroimaging. ResumoObjetivo: Esta revisão aborda as recentes descobertas da neurobiologia do retardo mental, enfatizando os novos recursos da citogené-tica, das técnicas moleculares e da neurorradiologia para esclarecer o diagnóstico. IntroduçãoO retardo mental (RM) é um dos transtornos neuropsiquiátricos mais comuns em crianças e adolescentes. A taxa de prevalência tradicionalmente citada é de 1% da população jovem 1,2 , porém alguns autores mencionam taxas de 2 a 3% 3,4 , e há estimativas de até 10% 5 . Há um consenso geral de que o RM é mais comum no sexo masculino, um achado atribuído às numerosas mutações dos genes encontrados no cromossomo X 6 . A razão entre os sexos masculino e feminino é de 1,3 a 1,9 para 1 3 . As crianças acometidas muitas vezes apresentam-se ao pediatra geral com queixa de atraso na fala/linguagem, alteração do comportamento, ou baixo rendimento escolar.O diagnóstico de RM é definido com base em três critérios 7 : início do quadro clínico antes de 18 anos de idade; função intelectual significativamente abaixo da mé-dia, demonstrada por um quociente de inteligência (QI) igual ou menor que 70; e deficiência nas habilidades adaptativas em pelo menos duas das seguintes áreas: comunicação, autocuidados, habilidades sociais/interpessoais, auto-orientação, rendimento escolar, trabalho, lazer, saúde e segurança. O QI normal é considerado acima de 85, ARTIGO DE REVISÃO S72

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Urine amino and organic acids analysis in developmental delay or intellectual disability

Abstract: Urine metabolic screening is an important part of the evaluation of children with DD/ID as it can enable families to make reproductive decisions and children to receive appropriate therapy early.

Cited by 9 publications

References 23 publications

Retardo mental

Retardo mental

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis

Mental retardation

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