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Biomedical subjects

J B Stephenson

Publications and source records attributed to J B Stephenson.

At least 19 recordsLinked to original sources
PubMed1992

Seizures and intellectual disability associated with tuberous sclerosis complex in the west of Scotland.

Of 104 individuals with tuberous sclerosis complex ascertained from the total population of the west of Scotland, 52 were born before and 52 after 1st July 1966. Of those born before. 10 had no seizures, 14 had seizures and no intellectual disability and 28 had seizures and intellectual disability; of those born after, four had no seizures, 18 had seizures and 30 had seizures and a degree of intellectual disability. Infantile spasms or other generalised seizures as the presenting seizure type (N = 29) was strongly associated with intellectual disability; partial seizures as the presenting seizure type (N = 19) was associated with normal development. Although the onset of seizures under one year of age and the presence of multiple seizure types were associated with intellectual disability, the strongest association was with the type of presenting seizure.

Child↗
PubMed1992

Fainting fits.

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Adult↗
PubMed1991

Blue breath holding is benign.

In their recent publication in this journal, Southall et al described typical cyanotic breath holding spells, both in otherwise healthy children and in those with brainstem lesions and other malformations. Their suggestions regarding possible autonomic disturbances may require further study, but they have adduced no scientific evidence to contradict the accepted view that in the intact child blue breath holding spells are benign. Those families in which an infant suffers an 'apparently life threatening event' deserve immense understanding and help, and it behoves investigators to exercise extreme care and self criticism in the presentation of new knowledge which may bear upon their management and their morale.

Apnea↗
PubMed1990

Rett's syndrome.

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Adolescent↗
PubMed1978

Two types of febrile seizure: anoxic (syncopal) and epileptic mechanisms differentiated by oculocardiac reflex.

The duration of cardiac asystole induced by ocular compression was measured in 100 consecutive children referred for electroencephalographic examination after one or more febrile convulsions (FC). The children were classified into three groups-namely, those with anoxic FCs, those with epileptic FCs, and "others"-according to the appearances of the FC and the electroencephalogram (EEG). In 14 children the description of the FC suggested non-epileptic anoxic cerebral seizures such as are seen after prolonged syncope or breath-holding. In 35 children the FCs were assumed to be epileptic in mechanism on the basis of unilateral (hemiclonic) twitching, known cerebral disease, a family history of epilepsy, or spikes on the EEG. In the 51 "others" the FCs could not be classified. Definitely abnormal asystole (four seconds or over) was induced by ocular compression in half the anoxic group, in 16% of the "others," but in none of the epileptic group. The differences between the degree of asystole induced in each of the three groups was highly significant (P=0.005).These results support the hypothesis that vagal-mediated cerebral ischaemic anoxia is implicated in the genesis of FCs that resemble anoxic seizures and in a substantial number of those without an obvious epileptic mechanism. The significance, genetics, management, and prognosis of FCs must now be re-examined in this light.

Brain Ischemia↗
PubMed1978

Depigmented hair. The earliest sign of tuberous sclerosis.

We have studied 4 children with tuberous sclerosis with one or more patches of depigmented scalp hair and in each case these were noticed by the parents at birth. In one patient the finding of a tuft of white hair preceded the appearance of white macules by many months. A tuft of white scalp hair is a useful new sign of tuberous sclerosis in the newborn and young child, and the hair should be examined as carefully as the skin when early 'organic' seizures are unexplained.

Hair Color↗
PubMed1978

Reflex anoxic seizures ('white breath-holding'): nonepileptic vagal attacks.

From clinical history 58 children were diagnosed as having reflex anoxic seizures secondary to provoked cardioinhibition (also known as white breath-holding attacks). Before referral, these seizures were commonly misdiagnosed as epileptic either because the provocation was ignored, not recognised, or was a febrile illness, or because there was no crying, no obvious breath-holding, little cyanosis, and often no pallor to suggest syncope and cerebral ischaemia. The duration of cardiac asystole after ocular compression was measured in these children and in 60 additional children with other paroxysmal disorders. In 45 (78%) of the 58 with reflex anoxic seizures asystole was 2 seconds or over, and in 32 (55%) it was 4 seconds or greater, an abnormal response. Review of the literature supports the concept that these seizures result from vagal-mediated reflex cardiac arrest which can if necessary be prevented by atropine. The simple name 'vagal attack' is proposed. Ocular compression under EEG and ECG control supports the clinical diagnosis if asystole and/or an anoxic seizure is induced; the procedure described is safe and should be routine in seizure or syncope evaluation, when a meticulous history still leaves room for doubt.

Adolescent↗