Metabolic disorders in the aetiology of mental retardation

1984 ◽  
pp. 133-159
Author(s):  
H. Bickel
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders

ELECTROENCEPHALOGRAPHIC AND ETIOLOGIC FINDINGS IN MENTAL RETARDATION

PEDIATRICS ◽  
1963 ◽  
Vol 31 (3) ◽  
pp. 478-485
Author(s):  
Gerald D. LaVeck ◽  
Felix de la Cruz
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders ◽  
Mentally Retarded ◽  
Motor Dysfunction ◽  
Diagnostic Aid ◽  
Mentally Retarded Children ◽  
Mental Subnormality ◽  
Etiologic Diagnosis

A series of 578 institutionalized mentally retarded patients was evaluated by a multi-discipline approach in order to establish a presumptive etiologic diagnosis. Abnormal electroencephalographic findings were found to be related to the age of the patient, the severity of retardation, and the presence of seizures or motor dysfunction. In this series 65.9% had abnormal tracings, and the most frequent abnormality was a focal change in 18.7%. However, focal abnormalities correlated with seizures and motor dysfunction so that no specific electroencephalographic aberration was characteristic of mental subnormality. Abnormal tracings were most frequent in nonseizure patients when subnormality was caused by intoxication, new growths, metabolic disorders, infectious processes, trauma, and encephalopathy of unknown cause in decreasing order of frequency. Abnormalities were seen in 36.4% of "cultural-familial" defectives and those whose intellectual defect was presumably due to psychologic factors. It is believed that electroencephalography is a valuable diagnostic aid in the evaluation of mentally retarded children.

Oligophrenia associated with various pathogenesis

2020 ◽  
Vol 56 (07) ◽  
pp. 73-76
Author(s):  
Afat Afar Israfilova ◽  
Keyword(s):  
Mental Retardation ◽  
Key Words ◽  
Metabolic Disorders ◽  
Genetic Disorders ◽  
Physical Illness ◽  
The Body ◽  
Negative Effect

The causes of pathology are different. There are various inherited genetic disorders of the body, which are metabolic disorders, chromosome deficiency leads to various pathologies. Other factors have a negative effect on embryonic pathogenesis in the intrauterine stage. As a result, the baby does not develop properly in the womb. Key words: Pathology, physical illness, infection, mental retardation

Metabolic Disorders Leading to Mental Deficiency

1963 ◽  
Vol 9 (5) ◽  
pp. 566-572 ◽  
Author(s):  
J L Karlsson
Keyword(s):  
Mental Retardation ◽  
Organic Carbon ◽  
Metabolic Disorders ◽  
Organic Materials ◽  
Mental Deficiency ◽  
New Approach ◽  
Carbon And Nitrogen ◽  
Metabolic Basis ◽  
Mental Defect

Abstract A new approach is described for the detection of abnormal metabolites in the urine of patients with known or suspected metabolic disorders. Distribution curves are presented for nonurea organic carbon and nitrogen which form a basis for judging whether grossly abnormal amounts of organic materials are present in the urine. Families with recurrent mental retardation have been identified whose mental defect may be on an unknown metabolic basis.

Screening for Treatable Disorders

PEDIATRICS ◽  
1993 ◽  
Vol 91 (4) ◽  
pp. 853-853
Author(s):  
ELLEN WRIGHT CLAYTON
Keyword(s):  
Mental Retardation ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Metabolic Disorders ◽  
The Other ◽  
Opportunity To Respond ◽  
Actual Risk

In Reply.— I appreciate the opportunity to respond to Dr Arnold's thoughtful letter because she raises a frequently made argument that failure to consent to newborn screening constitutes actionable neglect.1-3 The problem with this argument, however, is that it tends to combine inappropriately the risks of failing to screen with the risks of failing to treat a child with the disease being sought.4 For example, the actual risk that any particular child who is not screened will develop mental retardation that could have been avoided is very low simply because the incidence of phenylketouria (PKU), congenital hypothyroidism, and the other metabolic disorders sought is very low, even in the aggregate.

Stress degree demonstrated in mothers with phenylketonuria or hyperphenylalaninemia infant when requested for total or partial breastfeeding replacement

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Kleopatra Schulpis ◽  
Kostas Iakovou
Keyword(s):  
Mental Retardation ◽  
Liver Enzyme ◽  
Metabolic Disorders ◽  
Psychological Support ◽  
Severe Stress ◽  
Hydroxylase Deficiency ◽  
Medical Food ◽  
Case Presentation ◽  
Stress Symptoms ◽  
Symptoms And Signs

Abstract Obejctives Phenylketonuria (PKU) and hyperphenylalaninemia (HPHE) are metabolic disorders of phenylalanine (phe) metabolism due to the liver enzyme phe hydroxylase deficiency resulting in mental retardation. The only treatment of these disorders is the total or the partial breastfeeding replacement with special formula, respectively. Case presentation We aimed to evaluate the maternal stress degree in the two groups of mothers and compare the stress degree between mothers who were obliged to replace breastfeeding completely with those who replaced it partially. Mothers (n=50) were divided into two groups: n=25 with PKU and n=25 with HPHE infants. Mothers with PKU newborns were obliged to replace breastfeeding completely and feed their newborns with a common formula plus phe free medical food, whereas mothers with HPHE infants partially replaced breastfeeding with phe free medical food. Stress degrees were calculated using special questionnaire checklist by Bourne E. Psychological support was provided for both groups of mothers with stress. Conclusions Most mothers with PKU infants experienced high or severe stress, whereas mothers with HPHE newborns suffered from low and moderate symptoms and signs of stress. After psychological support most mothers with PKU newborns were ameliorated from stress symptoms; mothers with HPHE neonates experienced almost no stress symptoms. Mothers with PKU infants obliged to complete breastfeeding replacement experienced high and/or severe stress degrees as compared to mothers with HPHE newborns with partial breastfeeding replacement. Psychological support resulted in amelioration of both tested groups.

Metabolic Disorders Associated with Mental Retardation

1968 ◽  
Vol 15 (4) ◽  
pp. 889-904 ◽  
Author(s):  
David Yi-Yung Hsia ◽  
Julian L. Berman ◽  
Parvin Justice ◽  
Henry L. Nadler ◽  
Margaret E. O'Flynn
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders

scholarly journals Multiple hormonal resistance and metabolic disorders in pseudogypoparatiosis

2018 ◽  
Vol 15 (2) ◽  
pp. 51-55
Author(s):  
Larisa K. Dzeranova ◽  
Nadezhda V. Makazan ◽  
Ekaterina A. Pigarova ◽  
Anna N. Tiuliakova ◽  
Ekaterina V. Artemova ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders ◽  
Clinical Case ◽  
Phosphorus Metabolism ◽  
Gnas Gene ◽  
Calcium Phosphorus ◽  
Hormonal Resistance ◽  
Main Component ◽  
Gonadotropic Hormones ◽  
Rare Group

Pseudohypoparathyroidism is a rare group of clinically and genetically heterogeneous diseases caused by the inactivation of the PTH-signaling pathway. The main component of the disease is resistance to PTH, causing a disturbance of calcium-phosphorus metabolism. With pseudohypoparathyroidism, there may also be a development of insensitivity to thyrotropic and gonadotropic hormones of the pituitary gland and the formation of characteristic clinical features in the form of subcutaneous calcifications, brachidactyly, obesity, stuntedness, mental retardation. This article describes the clinical case of pseudohypoparathyroidism in a 35-year-old woman with classic phenotypic hypoparathyroidism with hereditary Albright osteodystrophy and a proven mutation in the GNAS gene, and discusses the spectrum of metabolic disorders of the disease.

scholarly journals Multiple hormonal resistance and metabolic disorders in pseudogypoparatiosis

2018 ◽  
Vol 15 (2) ◽  
pp. 51-55
Author(s):  
Larisa K Dzeranova ◽  
Nadezhda V Makazan ◽  
Ekaterina A Pigarova ◽  
Anna N Tiuliakova ◽  
Ekaterina V Artemova ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders ◽  
Clinical Case ◽  
Phosphorus Metabolism ◽  
Gnas Gene ◽  
Calcium Phosphorus ◽  
Hormonal Resistance ◽  
Main Component ◽  
Gonadotropic Hormones ◽  
Rare Group

Pseudohypoparathyroidism is a rare group of clinically and genetically heterogeneous diseases caused by the inactivation of the PTH-signaling pathway. The main component of the disease is resistance to PTH, causing a disturbance of calcium-phosphorus metabolism. With pseudohypoparathyroidism, there may also be a development of insensitivity to thyrotropic and gonadotropic hormones of the pituitary gland and the formation of characteristic clinical features in the form of subcutaneous calcifications, brachidactyly, obesity, stuntedness, mental retardation. This article describes the clinical case of pseudohypoparathyroidism in a 35-year-old woman with classic phenotypic hypoparathyroidism with hereditary Albright osteodystrophy and a proven mutation in the GNAS gene, and discusses the spectrum of metabolic disorders of the disease.

Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia

PEDIATRICS ◽  
1984 ◽  
Vol 74 (4) ◽  
pp. 509-513
Author(s):  
Harvey L. Levy ◽  
J. Thomas Coulombe ◽  
Rachel Benjamin
Keyword(s):  
Mental Retardation ◽  
Physical Examination ◽  
Metabolic Disorders ◽  
Screening Program ◽  
Emotional Disturbances ◽  
Urine Specimen ◽  
Urine Screening ◽  
Family Screening ◽  
Dysmorphic Features ◽  
Iq Scores

Sarcosinemia has been detected by routine screening of urine for metabolic and transport disorders in Massachusetts. Three infants who had sarcosinemia were detected through the neonatal urine specimen, an observed incidence of 1:350,000. A fourth child had sarcosinemia detected through family screening after his brother was found to have Hartnup disease by neonatal urine screening. These four children with sarcosinemia have plasma sarcosine concentrations ranging from 80 to 603 µmol/L and urine sarcosine from 2.1 to 9.4 µmol/mg of creatinine, findings similar to those reported for persons with sarcosinemia. No treatment has been given. At 3.8 to 15 years of age, the children had normal findings on physical examination and had no specific illnesses. Their full-scale IQ scores ranged from 89 to 111. The oldest child had a learning and emotional disorder, and one other child was emotionally unstable. It was concluded that sarcosinemia as a specific disorder is probably benign and that the mental retardation and dysmorphic features described in some affected persons are likely coincidental with the biochemical defect. The emotional disturbances that were encountered in two children are also probably coincidental but need further attention in this disorder.

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