Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy.

Svenja Brakemeier,Kathrin Kizina,Refik Pul,Andreas Thimm,Yakup Akkaya,Jana Hackert,Derya Aslan,Benjamin Stolte,Daniel Jokisch,Tim Hagenacker,Christoph Kleinschnitz,Juan Munoz-Rosales,Andreas Totzeck,Saskia Bolz

doi:10.3390/brainsci11091184

Svenja Brakemeier, Kathrin Kizina + Show 12 more

Open Access

https://doi.org/10.3390/brainsci11091184

Copy DOI

Journal: Brain sciences	Publication Date: Sep 9, 2021
Citations: 8	License type: CC BY 4.0

Affiliation: University of Duisburg-Essen

Abstract

In previous studies, a below-average, average, or above-average intelligence quotient (IQ) in children with SMA was detected but, aside from a severe physical disability, the cognitive performance of adult SMA patients has not yet been evaluated. The intelligence test used in this study, the Wechsler Adult Intelligence Scale, fourth edition (WAIS-IV), was used to measure major intelligence components of adult SMA patients. The WAIS-IV determines four index scores representing verbal comprehension, perceptual reasoning, working memory, and processing speed. Due to time-dependent demands on motor function, the processing speed index score was excluded. IQ index scores of 33 adult SMA patients did not differ from IQ index scores of the normal population. In SMA type-3 patients, the index scores for verbal comprehension, perceptual reasoning, and working memory did not differ from the normal population but showed a trend of IQ scores towards lower points. Patients with SMA type 2 had lower IQ index scores for working memory (90.33 ± 12.95; p = 0.012) and perceptual reasoning (90.73 ± 12.58; p = 0.013) than the normal population. This study provided further evidence that SMA is a multi-systemic disease and may refute the widespread hypothesis that SMA patients might improve their cognitive skills to compensate for their physical impairment.

Highlights

Spinal muscular atrophy (SMA) is an autosomal-recessive disease that affects motor neurons in the anterior horn
The performance IQ (PIQ) was subdivided into the Perceptual Reasoning Index (PRI) with core subtests Block Design, Matrix Reasoning and Visual Puzzles, and Processing Speed Index (PSI) with core subtests Symbol Search and Coding
An full-scale IQ (FSIQ) consisting of all four components (VCI, Working Memory Index (WMI), PRI, and PSI) could not be measured in this study and we only focused on the Verbal Comprehension Index (VCI), WMI, and PRI

Summary

Introduction

Spinal muscular atrophy (SMA) is an autosomal-recessive disease that affects motor neurons in the anterior horn. It is a common genetic cause of early infant mortality with an incidence of 1:10,000, caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by mutation, deletion or conversion. Patients with SMA type 3 (Kugelberg–Welander disease) learn to walk independently but may rely on a wheelchair during the course of their lives [4] Irrespective of their SMA type, patients can be classified as “non-sitters,” “sitters,” or “walkers,” which may vary over the course of life. These include, for example, patients with a condition following an injury to the cervical spinal cord who have often suffered a primary or secondary injury to the brain [7,8,9], and patients with amyotrophic lateral sclerosis (ALS), with manifestation in older patients [10,11]

Methods

Results

Conclusion