A Survey of 782 Cases of Mental Deficiency

Pitt, David; Roboz, Paul

doi:10.1111/j.1365-2788.1965.tb00816.x

Cited by 8 publications

(5 citation statements)

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“…Both patients had almost identical facial features with a wide mouth and palate, thick fleshy lips and a broad beaked nose with flared nostrils, and both also had clubbing of fingers and toes. The patients had been ascertained as a part of an etiological survey of 782 intellectually disabled individuals [Pitt and Roboz, 1965]. Over the next 28 years, only 4 sporadic patients [Singh 1993;Van Balkom et al, 1998;Peippo et al, 2006] and 1 pair of sibs [Orrico et al, 2001] supposed to have the same syndrome were published.…”

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confidence: 99%

Pitt-Hopkins Syndrome

Peippo

Ignatius

2011

Mol Syndromol

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a Pitt-Hopkins-like phenotype has been assigned to autosomal recessive mutations of the CNTNAP2 gene at 7q33q36 and the NRXN1 gene at 2p16.3. Copyright © 2011 S. Karger AG, Basel History of the SyndromeIn 1978, pediatrician David Pitt and pediatric neurologist Ian Hopkins at the Royal Children's Hospital in Melbourne described 2 unrelated children with severe intellectual disability who while awake had spells of rapid overbreathing followed by holding of breath until cyanosis [Pitt and Hopkins, 1978]. Both patients had almost identical facial features with a wide mouth and palate, thick fleshy lips and a broad beaked nose with flared nostrils, and both also had clubbing of fingers and toes. The patients had been ascertained as a part of an etiological survey of 782 intellectually disabled individuals [Pitt and Roboz, 1965]. Over the next 28 years, only 4 sporadic patients [Singh 1993;Van Balkom et al., 1998;Peippo et al., 2006] and 1 pair of sibs [Orrico et al., 2001] supposed to have the same syndrome were published.In 2007, 2 independent groups using molecular karyotyping identified a microdeletion at 18q21.2 in 2 PittHopkins syndrome (PTHS) patients and subsequently haploinsufficiency of the TCF4 gene was found to cause the syndrome [Amiel et al., 2007;Zweier et al., 2007]. The original patients of Pitt and Hopkins [1978] and the one described by Singh [1993] were no longer available for Key WordsApnea ؒ Constipation ؒ Deletion of 18q ؒ Epilepsy ؒ Happy disposition ؒ Hyperpnea ؒ Myopia ؒ Pitt-Hopkins syndrome ؒ Stereotypic movements ؒ TCF4 Abstract Pitt-Hopkins syndrome (PTHS, MIM #610954) is characterized by severe intellectual disability, typical facial features and tendency to epilepsy, panting-and-holding breathing anomaly, stereotypic movements, constipation, and high myopia. Growth is normal or only mildly retarded, but half of the patients have postnatal microcephaly. Remarkably, congenital malformations are practically nonexistent. The cause of PTHS is de novo haploinsufficiency of the TCF4 gene (MIM * 602272) at 18q21.2. Altogether 78 PTHS patients with abnormalities of the TCF4 gene have been published since 2007 when the etiology of PTHS was revealed. In addition, 27 patients with 18q deletion encompassing the TCF4 gene but without given PTHS diagnosis have been published, and thus, the number of reported patients with a TCF4 abnormality exceeds 100. The mutational spectrum includes large chromosomal deletions encompassing the whole TCF4 gene, partial gene deletions, frameshift (including premature stop codon), nonsense, splice site, and missense mutations. So far, almost all patients have a private mutation and only 2 recurrent mutations are known. There is no evident genotype-phenotype correlation. No familial cases have been reported. Diagnosis of PTHS is based on the molecular confirmation of the characteristic clinical features. Recently,

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Pitt-Hopkins Syndrome

Peippo

Ignatius

2011

Mol Syndromol

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“…Berg (1959) published an account of some of the pathological conditions found in 1,900 hospital patients in England, seven-eighths of whom were idiot or imbecile children. Pitt and Roboz (1965) give an account of 782 hospital defectives in Australia, 93.7 per cent of whom had an IQ of less than 50, and 69 per cent of whom were under 15 years of age. Although the present series of 251 idiot or imbecile children is smaller, comparisons can be made.…”

Section: Discussionmentioning

confidence: 99%

Children in the Mental Deficiency Hospitals of Glasgow and Argyll

Primrose¹

1968

Develop Med Child Neuro

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SUMMARY A review is made of the children under the age of 15 years occupying mental deficiency beds for the population of Glasgow and Argyll, Scotland, at January 1 1967. Of 269 children (1: 1,000 population under age 15 years) 253 are severely subnormal and of these 60 per cent are idiots. 33 per cent had epilepsy. The children mostly come from average homes and in 70 per cent of cases their relatives continue to show an active interest in them. Thirty‐two of the children were illegitimate and 58 had their admission to hospital accelerated for social reasons. The causes of the mental deficiency, where known, are detailed and compared with previous series. On comparison there is an increase in the incidence of those cases secondary to meningitis and encephalomyelitis and the number attributed to gastroenteritis with severe dehydration is uncommonly large. These increases may be due to a higher survival rate as the result of modern therapeutics. The cerebral palsy group is separately detailed to show any additional factors which might indicate those cases where the cerebral palsy and the mental deficiency are likely to have originated antenatally. The place of neonatal anoxia and low birthweight babies is discussed. More than half of the children appear to have had their severe subnormality determined ante‐natally. RÉSUMÉ Line etude des enfants de moins de 15 ans occupant des lits d'hôpitaux pour déficience mentale le premier Janvier 1967 a eté effectuée dans la population de Glasgow et de l'Argyll, en Écosse. Sur 269 enfants (1 pour 1.000 de la population de moins de 15 ans) il a été trouvé 253 enfants manifestement anormaux dont 60 pour cent étaient des idiots. 33 pour cent des cas présentaient une épilepsie. La plupart des enfants venaient de foyers normaux et pour 70 pour cent d'entre eux leur famine continuait à s'y iníéresser activement. 32 enfants étaient illégitimes et 58 avaient eu leur admission à l'hôpital anticipée pour raisons sociales. Les causes de la déficience mentale, lorsqu'elles sont connues, sont exposées en details et comparées avec des series précédentes. Par comparaison il y a une augmentation de la frequence des séquelles de méningite et d'encéphalomyélite; le nombre des cas attribués à une gastroentérite avec déshydration severe est anormalement élévé. Ces augmentations pourraient être dûes à un taux de survie plus élévé, resultat de la therapeutique moderne. Le groupe de l'infirmité motrice cérébrale est étudié séparément en details pour mettre en evidence tout facteur supplémentaire qui pourrait indiquer les cas où l'infirmité motrice cérébrale et la déficience mentale ont vraisemblablement une origine anténatale. On discute la place de l'anoxie et du faible poids à la naissance. Pour plus de la moitié des enfants, il semble que leur déficience severe ait été déterminée dès avant la naissance. RÉSUMÉ Se ha realizado una revista de los niños de menos de 15 años hospitalizados por debilidad mental en la ciudad de Glasgow y el condado de Argyll el primero de enero de 1967. De 269 niños (1:...

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“…Any physical defects found on examination were recorded as secondary or associated. The diagnosis made in all instances was based on Heber's method of classification (Heber 1961;Pitt and Roboz 1964). Heber's classification was modified to the extent of adding two additional categories "unknown" and "not retarded".…”

Section: Methodsmentioning

confidence: 99%