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Dorothy A Thompson

Publications and source records attributed to Dorothy A Thompson.

5 recordsLinked to original sources
PubMed2006

Prevalence of abnormal pattern reversal visual evoked potentials in craniosynostosis.

BACKGROUND: The purpose of this study was to examine the prevalence and type of changes observed in the pattern reversal visual evoked potentials recorded at the first assessment of children with craniosynostosis. METHODS: Visual evoked potentials were recorded from 114 patients with craniosynostosis. Eighty-one patients were syndromic and 33 were nonsyndromic. No patient had received any craniofacial surgical intervention. At the time of the test, 22 of 40 patients were aged 6 months and younger, and 18 patients were between 6 months and 1 year of age. Pattern reversal visual evoked potentials were recorded from a midoccipital electrode positioned 3 cm above the inion. The pattern reversal visual evoked potentials elicited to 50' checks with three reversals per second viewed with both eyes were analyzed for n80-p100 amplitude, p100 latency, and breadth of waveform. RESULTS: Sixty percent of patients had abnormal pattern reversal visual evoked potentials to 50' checks. This did not show a significant association with age, or classification of craniosynostosis. CONCLUSIONS: The high prevalence of abnormal pattern reversal visual evoked potentials to a robust stimulus suggests that visual pathway dysfunction, as measured electrophysiologically, can affect a majority of patients with craniosynostosis. This study indicates that a baseline evaluation of all children with craniosynostosis at their first presentation is essential if subsequent electrophysiologic visual pathway monitoring is to take place.

Craniosynostoses↗
PubMed2004

Joubert syndrome: long-term follow-up.

Twenty-nine patients (16 males, 13 females) with Joubert syndrome were identified from ophthalmology, neurology, and genetic databases covering a 15-year period at Great Ormond Street Hospital, London. Criteria for diagnosis included absent or markedly hypoplastic cerebellar vermis, abnormal eye movements, and developmental delay. Five patients had died. Scans and notes were available for 22 patients, and 18 cases were clinically reviewed. The median age was 10 years 10 months (range 3mo to 19y) and the median follow-up was 8 years 5 months (range 3mo to 19y, with one new patient seen at 3mo of age). Cerebellar vermis hypoplasia/aplasia with 'molar tooth sign' in the axial plane was present in 22 of 22 patients, coloboma in 6 of 22, and polydactyly in 6 of 22. In the 18 clinically reviewed, apnoea occurred in 13 patients. Five had renal problems with cysts and 4 of 5 had abnormal electroretinograms (ERGs). Visual electrophysiology was abnormal in 14 of 18 patients, and in 6 there was evidence of deterioration in the ERG. Blood investigations of organic acids, phytanic acid, very-long-chain fatty acid, and transferrin were normal in 12 patients tested. Developmental assessment showed that 6 of 15 patients aged more than 5 years were at mainstream school, and 12 of 18 had started walking between 22 months and 10 years. Speech difficulties and behavioural problems were prominent.

Achilles Tendon↗
PubMed2004

Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p.

We describe the clinical features of a new syndrome causing hyperinsulinism in infancy (HI), severe enteropathy, profound sensorineural deafness, and renal tubulopathy in three children born to two pairs of consanguineous parents. This combination of clinical features is explained by a 122-kb contiguous gene deletion on the short arm of chromosome 11. It deletes 22 of the 39 exons of the gene coding for the SUR1 component of the KATP channel on the pancreatic beta-cell thereby causing severe HI. It also deletes all but two of the 28 exons of the USH1C gene, which causes Usher syndrome and is important for the normal development and function of the ear and the eye, the gastrointestinal tract, and the kidney, thereby accounting for the symptoms of deafness, vestibular dysfunction and retinal dystrophy seen in type 1 Usher syndrome, diarrhoea, malabsorption, and tubulopathy. This contiguous gene deletion provides important insights into the normal development of several body organ systems.

Child, Preschool↗
PubMed2003

Sustained raised intracranial pressure implicated only by pattern reversal visual evoked potentials after cranial vault expansion surgery.

Craniosynostosis, the premature fusion of cranial sutures, may be associated with raised intracranial pressure (ICP) with or without a reduced intracranial volume. Regardless of the aetiology, raised ICP may result in optic neuropathy, the timely detection of which can prevent further visual deterioration. Raised ICP is usually treated with craniofacial surgery such as cranial vault expansion. In this case study, we recorded serial pattern reversal visual evoked potentials (pVEPs) and obtained digital optic disc images before and after cranial vault expansion surgery. The amplitude of the pVEPs continued to decrease after cranial vault expansion surgery, prompting further neuroimaging that implicated a blocked ventriculo-peritoneal shunt. Only after shunt revision did the pVEP amplitude increase. Throughout the monitoring period, there was no change in the appearance of either the right or left optic disk, nor a consistent change in visual acuity.

Child↗