Cognitive and speech-language performance in children with ataxia telangiectasia

Item does not contain fulltextOBJECTIVE: To describe cognitive and speech-language functioning of patients with ataxia-telangiectasia (A-T) in relation to their deteriorating (oculo)motor function. DESIGN: Observational case series. METHODS: Cognitive functioning, language, speech and oral-motor functioning were examined in eight individuals with A-T (six boys, two girls), taking into account the confounding effects of motor functioning on test performance. RESULTS: All patients, except the youngest one, suffered from mild-to-moderate/severe intellectual impairment. Compared to developmental age, patients showed cognitive deficits in attention, (non)verbal memory and verbal fluency. Furthermore, dysarthria and weak oral-motor performance was found. Language was one of the patients' assets. CONCLUSION: In contrast to the severe deterioration of motor functioning in A-T, cognitive and language functioning appeared to level off with a typical profile of neuropsychological strengths and weaknesses. Based on our experiences with A-T, suggestions are made to determine a valid assessment of the cognitive and speech-language manifestations

Intracranial tumors during the 1st year of life

Twenty-eight patients with intracranial tumors symptomatic during the 1st year of life were managed from January 1970 to March 1988. Supratentorial location (19 cases) was dominant over the infratentorial. The most common histological type was astrocytoma; choroid plexus papilloma and ependymal tumors followed in frequency. Twenty-two infants (78.6%) had associated hydrocephalus. Macrocrania, vomiting, delayed milestones, and behavioral disturbances were the chief clinical manifestations. Four patients were admitted in extremely deteriorated condition and died preoperatively. Twenty cases underwent surgery for tumor removal with a 1-month mortality rate of 20%. Tumor excision provided permanent relief of hydrocephalus in the majority of the surviving cases. Five patients received conventional radiotherapy. Stereotactic brachytherapy yielded an excellent result in 1 case. Overall 13 cases are currently alive; 6 of them have survived longer than 6 years. Fourteen of the 15 patients who were dead at follow-up succumbed within 1 year after diagnosis. © 1989 Springer-Verlag