Studies on 782 Cases of Mental Deficiency Part Iv

Roboz, Paul; Pitt, David

doi:10.1111/j.1440-1754.1969.tb02736.x

Cited by 3 publications

(3 citation statements)

References 26 publications

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“…1, 2, 3, and 4 and cytogenetic data are recorded in the Table. Case reports Family A (Fig. 1) The family is known (Roboz and Pitt, 1969) through 4 generations and shows retardation in 3 generations. In generation II all 5 males in a sibship of 10 were retarded whereas all 5 females had normal IQs.…”

mentioning

confidence: 99%

Familial X-linked mental retardation with an X chromosome abnormality.

Harvey¹,

Judge²,

Wiener³

1977

Journal of Medical Genetics

149

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mentioning

confidence: 99%

Familial X-linked mental retardation with an X chromosome abnormality.

Harvey¹,

Judge²,

Wiener³

1977

Journal of Medical Genetics

149

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“…The raised ratio of twins is closely related to prenatal factors, as discussed in the section on dyscranias and malformations (Roboz and Pitt, 1969). Another finding pointing to the effect of prenatal influences was the irregular head circumference curve which showed a close resemblance to the distribution of the circumferences in dyscrania and malformations with neurological symptoms (Roboz and Pitt, 1969). Thus these findings might be evaluated as the consequences of 'unknown prenatal influence'.…”

Section: Discussionmentioning

confidence: 97%

Studies on 782 Cases of Mental Deficiency Part V

ROBOZ¹,

PITT²

1970

J Paediatr Child Health

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SUMMARY We have studied 116 patients in Heber's Category VII (encephalopathy due to unknown cause, with neurological signs). 4 of these had a progressive neurological disease of obscure type, 53 had motor disorders, and 59 were epileptic. 19 of the 53 cases of cerebral palsy were also epileptic. In this group, when compared with a control series, the incidence of prematurity, of twins and of neonatal symptoms were increased, suggesting the possible operation of perinatal factors. There was also the usual tendency to a small head (80.6%) with circumferences more than 3 standard deviations below the mean. In the 59 cases of epilepsy without motor disorders there were 7 cases without overt seizures but an abnormal EEG. In the whole group, the incidence of prematurity and of twins were again raised, and there was also an excess of complications of pregnancy. However, in addition to this evidence that prenatal factors are involved, there was some evidence of genetic factors, for in 10 families there were relatives with epilepsy and/or mental retardation. The tendency to have a small head (27.6%) was less marked than in the cerebral palsy group, but the incidence of psychiatric disorders (64.4%) was high. Among these disorders there were two groups (a) those with hyperactive explosive behaviour, and (b) those who showed psychotic, autistic or withdrawn features. It is considered that brain damage has played a major role in these psychiatric features.

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“…Besides "nonspecific" X-linked MR, no other diagnosis is possible in the patients reported by Roboz and Pitt, 1969;Neuhauser et al, 1969;Snyder and Robinson, 1969;Neuhauser and Zerbin-Riidin, 1970;Turner et al, 1971aYarbrough and Howard-Peebles, 1976;Wolff et al, 1978; however, it must be noted that patients of Roboz and Pitt were later restudied by and found to have the fra(X)(q28).…”

Section: X-linked Mental Retardationmentioning

confidence: 93%

X Linked Mental Retardation

Turner¹

1970

Australian Journal of Mental Retardation

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1. Height above the 97th percentile or below the 3rd percentile. 2. Head circumference above the 97th percentile or below the 3rd percentile.3. Fits necessitating continuous medication. 4. One major or two or more minor congenital abnormalities. 5. A definitive diagnosis. 6. Neurological signs.There were 17 individuals without abnormality. The family histories of these 17 moderately retarded males were then examined. 7 of them had a similarly affected brother. In 4 there was a positive family history compatible with X-linkage, without an affected male sibling. Therefore, in 11 out of the 17 (65%) there was either an affected male sibling or a family history compatible with X-linkage. In none of the families was ^ere an affected sister. The propositus being excluded, the ratio of affected brothers/normal 3.

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Studies on 782 Cases of Mental Deficiency Part Iv

Cited by 3 publications

References 26 publications

Familial X-linked mental retardation with an X chromosome abnormality.

Familial X-linked mental retardation with an X chromosome abnormality.

Studies on 782 Cases of Mental Deficiency Part V

X Linked Mental Retardation

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