Neurocognitive impairment in patients with Ataxia Telangiectasia and their unaffected parents: Is it similar?

Aim Ataxia Telangiectasia (AT) is a genetic multi-systemic disorder affecting the nervous system, with main manifestations being related to motor functions. Data on neurocognitive functioning in AT is limited and focused on patients at various stages of disease. Because of genetic nature of the disorder, parents of patients may also display subtle neurological problems. This study aimed to evaluate neurocognitive functioning in patients with AT and their unaffected parents. Materials-Methods The study included 26 AT patients and 41 parents among which 13 patients and 18 parents were evaluated with neurocognitive tests. Clinical and radiological data were reviewed retrospectively. Data were analyzed with descriptive statistics. Results Median age of patients 12.5 years (IQR= 9.5) and 38.0 years (IQR= 12.0); respectively. Median intelligence quotients were 62.0 (IQR=21.3) and 82.5 (IQR=16.8); respectively for patients and parents. Rates of intellectual disability for patients and parents were 100.0% and 83.3%; respectively. Areas of impairment in patients in decreasing order of frequency were motor skills, visual perception/ memory, visual-manual coordination, spontaneous/ focused and sustained attention (100.0% for each); social judgement, vocabulary and arithmetic skills (75.0% for each). Areas of impairment in unaffected parents in decreasing order of frequency were visual-manual coordination (77.8%), working memory (76.5%), visual perception and motor skills (66.7% for each). Conclusion Intellectual disabilities, visual-spatial disabilities and reduced visual-motor coordination seem to be similar in patients with AT and their parents. Those results should be replicated with larger samples from multiple centers and may form putative cognitive endo-phenotypes for the disorder.