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F J O'Callaghan

Publications and source records attributed to F J O'Callaghan.

13 recordsLinked to original sources
PubMed2001

Ophthalmic manifestations of tuberous sclerosis: a population based study.

BACKGROUND/AIMS: Tuberous sclerosis complex (TSC) has retinal and non-retinal ophthalmic manifestations. This study was designed to determine the prevalence of the ophthalmic manifestations and of refractive errors in a population of patients with TSC. METHODS: 179 patients identified were in a prevalence study of TSC in the south of England and 107 of these agreed to full ophthalmic examination which was successful in 100. Ophthalmic examination included examination of the eyelids, cover test, examination of the irides, dilation funduscopy using both direct and indirect ophthalmoscopy, and refraction using retinoscopy. Myopia was defined as a spherical equivalent <-0.5D and hyperopia as a spherical equivalent >+0.5D. RESULTS: Retinal hamartomas were seen in 44 of the 100 patients. The commonest morphological type of hamartoma seen was the flat, translucent lesion in 31 of the 44 patients (70%). The multinodular "mulberry" lesion was seen in 24 of the 44 patients (55%) and the transitional type lesion was seen in four of the 44 patients (9%). Punched out areas of retinal depigmentation were seen in 39 of the 100 patients but only six of 100 controls. 27% of eyes were myopic, 22% were hyperopic, and 27% had astigmatism >0.75D. Of the non-retinal findings, 39 patients had angiofibromas of the eyelids, five had non-paralytic strabismus, and three had colobomas. CONCLUSION: Apart from the higher prevalence of flat retinal hamartomas, the findings of this study compare closely with previous large clinic based series of TSC patients. Refractive findings were similar to previous studies of a similarly aged non-TSC population. This is the first series to document the statistically significant association of punched out chorioretinal depigmentation with TSC and the authors believe that it should be looked for as an aid to diagnosis.

Adolescent↗
PubMed2000

Non-penetrance in tuberous sclerosis.

As a result of extreme clinical variability in tuberous sclerosis, with one well-documented example of non-penetrance, phenotypically normal siblings or children of patients with tuberous sclerosis are thought to be at increased risk of having children with the disease. We report that the case of apparent non-penetrance that was previously described is the result of two independent tuberous-sclerosis mutations in the same family.

Exons↗
PubMed2000

Trends in epilepsy mortality in England and Wales and the United States, 1950-1994.

The aim of this study was to analyze time trends in epilepsy mortality in England and Wales and the United States between 1950 and 1994. The authors calculated age- and sex-specific epilepsy mortality rates for the nine quinquennia from 1950-1954 to 1990-1994. Mortality rates were modeled as a function of age, period of death, and cohort of birth by using Poisson regression techniques. From 1950 to 1994, there were more than 110,000 deaths from epilepsy in the two countries. The secular trends in mortality were similar for both sexes and in both countries. Among people younger than age 20 years, epilepsy mortality declined steeply after 1950. For young and middle-aged adults, the rate of decline was lower. In the geriatric population, mortality declined between 1950 and 1974 but then increased. The Poisson model showed pronounced birth cohort effects. In the United States, epilepsy mortality fell with each successive birth cohort after 1905. In England and Wales, there was a similar decline in birth cohort mortality after 1905 for women but not until after 1950 for men. The pronounced birth cohort effect supports explanations that focus on antenatal and developmental factors as the cause for the decline in epilepsy mortality in all but the oldest age groups between 1950 and 1994.

Adolescent↗
PubMed1999

Cognitive deficits in normally intelligent patients with tuberous sclerosis.

Webb, Thomson, and Osborne [1991: Arch Dis Child 66:1375-1377] reported on the pattern of cerebral lesions found in an epidemiological sample of patients with tuberous sclerosis (TS) and clinically judged to be of normal intellect. Varying numbers of tubers and subependymal nodules were found, but clinically there appeared to be few associated neuropsychological impairments. Our objectives in this study were to conduct a detailed neuropsychological assessment to determine whether these patients were indeed free of cognitive deficits. We report the results of a detailed neuropsychological assessment in this sample and a matched comparison group. Although of average intelligence, most TS individuals had a significant cognitive deficit of one sort or another, and in a number of cases the pattern of cognitive impairments matched that seen in other neurological disorders. Additionally, the overall rate of cognitive deficits was significantly greater than in the controls. We conclude that normally intelligent individuals with TS are prone to specific cognitive difficulties. Further research will be required to clarify the nature of the links between the brain abnormalities and type of neuropsychological dysfunction. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:642-646, 1999.

Adolescent↗
PubMed1999

Use of melatonin to treat sleep disorders in tuberous sclerosis.

The results of a therapeutic trial of the use of melatonin in patients with tuberous sclerosis complex who also have severe sleep problems are reported. We used a randomized double-blind placebo-controlled crossover design. Seven patients with confirmed diagnoses of tuberous sclerosis and significant sleep disorder were recruited. We employed three outcome measures: total sleep time, time to sleep onset, and number of awakenings. Patients treated with melatonin had a small but clinically significant improvement in total sleep time (mean improvement 0.55 hours, P<0.05). They also tended to have an improvement in sleep-onset time but this did not reach statistical significance. Melatonin, in this trial, had no discernible effect on sleep fragmentation. We conclude that melatonin does have a beneficial effect in prolonging the total sleep time of patients with tuberous sclerosis and sleep disorder and that further trials are necessary to investigate the issues of optimal dosage, tolerance, and possible interactions with other medications.

Adolescent↗
PubMed1998

Tuberous sclerosis complex and Wolff-Parkinson-White syndrome.

This report highlights the association between tuberous sclerosis and Wolff-Parkinson-White syndrome. Ten patients with concurrent diagnoses of Wolff-Parkinson-White syndrome and tuberous sclerosis were identified. Wolff-Parkinson-White syndrome presented early in life, nine cases being diagnosed in the first year. Eight of the 10 cases were male. In eight cases, the syndrome was associated with supraventricular tachycardias, and in nine with cardiac rhabdomyomata. One child died from cardiac failure secondary to obstruction of the left ventricular outflow tract by a rhabdomyoma. Five of nine survivors showed resolution of Wolff-Parkinson-White syndrome on follow up. The accessory pathway was localised in nine patients from surface electrocardiograms: six children had left sided pathways and three had right sided pathways.

Electrocardiography↗