Cognitive Phenotype in Ataxia-Telangiectasia

Hoche, Franziska; Frankenberg, Emily; Rambow, Jennifer; Theis, Marius; Harding, Jessica Ann; Qirshi, Mayyada; Seidel, Kay; Barbosa-Sicard, Eduardo; Porto, Luciana; Schmahmann, Jeremy D.; Kieslich, Matthias

doi:10.1016/j.pediatrneurol.2014.04.027

Cited by 42 publications

(26 citation statements)

References 61 publications

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“…Formal neurocognitive testing is hindered by motor and communication deficits, and studies including older patients have not included this testing. Domains involved are attention, nonverbal memory, and word fluency, and global intellectual function ranges from mild to moderate impairment . This intellectual disability is rarely a source of major disability and motor features predominate in this respect …”

Section: Systemic and Other Neurological Featuresmentioning

confidence: 99%

Ataxia‐telangiectasia: A review of movement disorders, clinical features, and genotype correlations

Levy

Lang

2018

Movement Disorders

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Ataxia-telangiectasia is an autosomal recessive neurodegenerative disorder that was initially thought to present exclusively in childhood. With the discovery of the ATM gene, the phenotypic spectrum of the condition has expanded. This review elaborates the expanded phenomenology, including oculomotor apraxia and immunodeficiency, and estimates the presence of each movement disorder feature from previously reported literature. Initial manifestations of Ataxia-telangiectasia include cerebellar symptoms (67%), dystonia (18%), choreoathetosis (10%), and tremor (4%), with parkinsonism and myoclonus not reported as initial features. The prevalence of movement disorders during the course of the disease includes cerebellar symptoms (96%), dystonia (89%), parkinsonism (41%), choreoathetosis (89%), myoclonus (92%), and tremor (74%). Phenomenology and age of onset is modulated by presence of residual ATM kinase activity, with genotypes heavily truncating the ATM protein associated with the most severe phenotypes. Ataxia-telangiectasia commonly results in a spectrum of movement disorders beyond ataxia and telangiectasias. © 2018 International Parkinson and Movement Disorder Society.

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Section: Systemic and Other Neurological Featuresmentioning

confidence: 99%

Ataxia‐telangiectasia: A review of movement disorders, clinical features, and genotype correlations

Levy

Lang

2018

Movement Disorders

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“…It is possible that the neuropsychiatric spectrum of the CCAS may differ in children compared to adults. This is suggested by reports of developmental CCAS in children with cerebellar disorders that describe neurobehavioral deficits in attentional control, autism spectrum and social skill set [29–31, 85, 86]. …”

Section: Discussionmentioning

confidence: 99%

Cerebellar Contribution to Social Cognition

et al. 2015

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Emotion attribution (EA) from faces is key to social cognition, and deficits in perception of emotions from faces underlie neuropsychiatric disorders in which cerebellar pathology is reported. Here we test the hypothesis that the cerebellum contributes to social cognition through EA from faces. We examined fifty-seven patients with cerebellar disorders and 57 healthy controls. Thirty-one patients had complex cerebrocerebellar disease (CD); 26 had disease isolated to cerebellum (ID). EA was measured with the Reading the Mind in the Eyes task (RMET), and informants were administered a novel questionnaire, the Cerebellar Neuropsychiatric Rating Scale (CNRS). EA was impaired in all patients (CD p<.001, ID p<.001). When analyzed for valence categories, both CD and ID missed more positive and negative stimuli. Positive targets produced the highest deficit (CD p<0.001, ID p=0.004). EA impairments correlated with CNRS measures of deficient social skills (p<.05) and autism spectrum behaviors (p<.005). Patients had difficulties with emotion regulation (CD p<.001, ID p<.001), autism spectrum behaviors (CD p<.049, ID p<.001), and psychosis spectrum symptoms (CD p<.021, ID p<.002). ID informants endorsed deficient social skills (CD p<.746, ID p<.003) and impaired attention regulation (CD p<.144, ID p<.001). Within the psychosis spectrum domain, CD patients were worse than controls for lack of empathy (CD p=0.05; ID p=0.49). Thus, patients with cerebellar damage were impaired on an EA task associated with deficient social skills and autism spectrum behaviors, and experienced psychosocial difficulties on the CNRS. This has relevance for ataxias, the cerebellar cognitive affective / Schmahmann syndrome, and neuropsychiatric disorders with cerebellar pathology.

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“…[57][58][59][60][61][62][63] Testing cognitive skills in What this paper adds • Recommendations for the clinical management of patients with ataxiatelangiectasia. [57][58][59][60][61][62][63] Testing cognitive skills in What this paper adds • Recommendations for the clinical management of patients with ataxiatelangiectasia.…”

Section: Cognition and Behaviour Backgroundmentioning

confidence: 99%

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

Haaxma

Flier

et al. 2017

Develop Med Child Neuro

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Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.

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Cognitive Phenotype in Ataxia-Telangiectasia

Cited by 42 publications

References 61 publications

Ataxia‐telangiectasia: A review of movement disorders, clinical features, and genotype correlations

Ataxia‐telangiectasia: A review of movement disorders, clinical features, and genotype correlations

Cerebellar Contribution to Social Cognition

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

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