Background: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up.
Methods: Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16-65 years, 13 years after a similar examination.
Results: The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients.
Conclusions: Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499899 | PMC |
| http://dx.doi.org/10.1186/s11689-015-9116-7 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Sustained effects after a multidisciplinary lifestyle modification program for overweight and obese children.
Obes Res Clin Pract
January 2025
Department of Pediatrics, National Taiwan University Hospital, National Taiwan University Children's Hospital, Taipei, Taiwan; Hepatitis Research Center, National Taiwan University Hospital, National Taiwan University Children's Hospital, Taipei, Taiwan; Department and Graduate Institute of Medical Education and Bioethics, National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address:
Background: Lifestyle modification (LM) is the mainstay in the management of obese children. This study aimed to investigate the long-term effects of a pediatric cohort participating in a hospital-based LM program.
Methods: Overweight/obese children and adolescents who visited a multidisciplinary LM program "The Health and Vitality Clinic" were included.
Statin Use With Immune Checkpoint Inhibitors and Survival in Nonsmall Cell Lung Cancer.
Clin Lung Cancer
December 2024
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD; The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD.
Objective: To determine the association between concurrent statin use with immune checkpoint inhibitors (ICIs) and lung cancer-specific and overall mortality in patients with nonsmall cell lung cancer (NSCLC).
Materials And Methods: SEER-Medicare was used to conduct a retrospective study of Medicare beneficiaries ≥65 years of age diagnosed with NSCLC between 2007 and 2017 treated with an ICI. Patients were followed from date of first ICI claim until death, 1 month from last ICI claim, or 12/31/2018, whichever came first.
The impact of mental health disorders on outcomes following total ankle arthroplasty: A systematic review.
Foot Ankle Surg
January 2025
Foot and Ankle Division, Department of Orthopaedic Surgery, NYU Langone Health, New York City, NY 10002, USA. Electronic address:
Background: The purpose of this systematic review was to evaluate the impact of mental health disorders (MHDs) on the clinical and functional outcomes following total ankle arthroplasty (TAA) for the treatment of end-stage ankle arthritis.
Methods: A systematic review of the EMBASE, MEDLINE, and Cochrane Library databases was conducted in April 2024 following PRISMA guidelines. Data collected included patient demographics, clinical outcomes, complications, and failures.
How does attention deficit/hyperactivity disorder affect driving behavior components? Baseline findings from Persian traffic cohort.
Chin J Traumatol
January 2025
Road Traffic Injury Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:
Purpose: Attention-deficit/hyperactivity disorder (ADHD) increases the risk of road traffic injuries through various mechanisms including higher risky driving behaviors. Therefore, drivers with ADHD are shown to be more prone to road traffic injuries. This study was conducted in a community-based sample of drivers to determine how ADHD affects driving behavior components.
View Article and Find Full Text PDFValidating psychometric properties of generic quality-of-life instruments (WHOQOL-BREF (TW) and EQ-5D) among non-dialysis chronic kidney disease: Rasch and confirmatory factor analyses.
J Formos Med Assoc
January 2025
Division of Nephrology, Department of Internal Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng-Kung University, Tainan, Taiwan; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address:
Background: Quality of life (QOL) is important for evaluating medical care outcomes. In chronic kidney disease (CKD) population, generic instruments, such as WHOQOL-BREF and EQ-5D, are commonly used for comparing various medical conditions for policy-making purposes. However, their psychometric properties have not yet been validated in non-dialysis CKD population.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!