Abstract:
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.
journal_name
J Neurodev Disordjournal_title
Journal of neurodevelopmental disordersauthors
Paavola LE,Remes AM,Harila MJ,Varho TT,Korhonen TT,Majamaa Kdoi
10.1186/s11689-015-9116-7subject
Has Abstractpub_date
2015-01-01 00:00:00pages
20issue
1eissn
1866-1947issn
1866-1955pii
9116journal_volume
7pub_type
杂志文章abstract::Fragile X syndrome (FXS) is caused by an expanded CGG repeat (>200 repeats) in the 5' un-translated portion of the fragile X mental retardation 1 gene (FMR1) leading to a deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA-binding protein that regulates the translation of a number of other genes that are ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-011-9084-5
更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-019-9285-x
更新日期:2019-10-16 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-019-9275-z
更新日期:2019-07-31 00:00:00
abstract:BACKGROUND:The DYX5 locus for developmental dyslexia was mapped to chromosome 3 by linkage study of a large Finnish family, and later, roundabout guidance receptor 1 (ROBO1) was implicated as a candidate gene at DYX5 with suppressed expression from the segregating rare haplotype. A functional magnetoencephalographic st...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-016-9136-y
更新日期:2016-01-27 00:00:00
abstract:: Children with specific language impairment (SLI) are thought to have an inherited form of language impairment that spares other developmental domains. SLI shows strong heritability and recent linkage and association studies have replicated results for candidate genes. Regulatory regions of the genes may be involved. ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/1866-1955-4-27
更新日期:2012-11-24 00:00:00
abstract::Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Anxiety and social withdrawal are considered core features of the FXS phenotype, yet there is limited diagnostic evidence of the prevalence of formal anxiety disorders in FXS. This study assessed the prevalence of anxiety disor...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-010-9067-y
更新日期:2011-03-01 00:00:00
abstract:: For decades, researchers have sought to clarify the nature of the social communication impairments in autism, highlighting impaired or atypical 'social attention' as a key measurable construct that helps to define the core impairment of social communication. In this paper, we provide an overview of research on social...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/1866-1955-4-11
更新日期:2012-05-17 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-019-9280-2
更新日期:2019-08-19 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章,评审
doi:10.1186/s11689-019-9292-y
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
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更新日期:2011-12-01 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-019-9272-2
更新日期:2019-07-10 00:00:00
abstract:BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is the most common micro-deletion syndrome. The associated 22q11.2 deletion conveys the strongest known molecular risk for schizophrenia. Neurodevelopmental phenotypes, including intellectual disability, are also prominent though variable in severity. Other developmental...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-015-9113-x
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Individuals with autism spectrum disorder (ASD) show a relative indifference to the human voice. Accordingly, and contrarily to their typically developed peers, adults with autism do not show a preferential response to voices in the superior temporal sulcus; this lack of voice-specific response was previousl...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-017-9194-9
更新日期:2017-04-05 00:00:00
abstract::In the original publication of this article [1], the author name Leonard Abbeduto was misspelled as Leonardkk Abbeduto. The original article has been corrected. ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章,已发布勘误
doi:10.1186/s11689-020-09314-5
更新日期:2020-04-02 00:00:00
abstract:BACKGROUND:Children with autism spectrum disorder (ASD) show marked impairment in social functioning and poor adaptation to new and changing contexts, which may be influenced by underlying regulatory processes. Oxytocin (OT) and cortisol are key neuromodulators of biological and behavioral responses, show a synergistic...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-016-9165-6
更新日期:2016-08-18 00:00:00
abstract:BACKGROUND:One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clin...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-016-9152-y
更新日期:2016-05-06 00:00:00
abstract:BACKGROUND:Perinatal exposure to air pollution and immune system dysregulation are two factors consistently associated with autism spectrum disorders (ASD) and other neurodevelopmental outcomes. However, little is known about how air pollution may influence maternal immune function during pregnancy. OBJECTIVES:To asse...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-020-09343-0
更新日期:2020-12-16 00:00:00
abstract::Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of A...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章,评审
doi:10.1186/1866-1955-6-39
更新日期:2014-01-01 00:00:00
abstract::To examine brain volumes in substructures associated with the behavioral features of children with FXS compared to children with idiopathic autism and controls. A cross-sectional study of brain substructures was conducted at the first time-point as part of an ongoing longitudinal MRI study of brain development in FXS....
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-009-9009-8
更新日期:2009-03-01 00:00:00
abstract:BACKGROUND:Children with autism spectrum disorder (ASD) show impairment in reciprocal social communication, which includes deficits in social cognition and behavior. Since social cognition and social behavior are considered to be interdependent, it is valuable to examine social processes on multiple levels of analysis....
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/1866-1955-6-35
更新日期:2014-01-01 00:00:00
abstract::[This corrects the article DOI: 10.1186/s11689-016-9179-0.]. ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 已发布勘误
doi:10.1186/s11689-017-9192-y
更新日期:2017-03-06 00:00:00
abstract:BACKGROUND:Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-017-9197-6
更新日期:2017-05-02 00:00:00
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journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-010-9051-6
更新日期:2010-09-01 00:00:00
abstract::The paper argues that both evolutionary and genetic approaches to studying the biological foundations of speech and language could benefit from fractionating the problem at a finer grain, aiming not to map genetics to "language"-or even subdomains of language such as "phonology" or "syntax"-but rather to link genetic ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-011-9097-0
更新日期:2011-12-01 00:00:00
abstract:UNLABELLED: BACKGROUND:A previous study reported enhanced psychomotor speed, and subtle but significant cognitive impairments, modulated by age and by mutations in the fragile X mental retardation 1 (FMR1) gene in adult female fragile X premutation carriers (fXPCs). Because male carriers, unlike females, do not have a...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/1866-1955-4-26
更新日期:2012-11-13 00:00:00
abstract::The primary goal of this study was to examine environmental and neuroendocrine factors that convey increased risk for elevated autistic behavior in boys with Fragile X syndrome (FXS). This study involves three related analyses: (1) examination of multiple dimensions of social approach behaviors and how they vary over ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-009-9028-5
更新日期:2009-12-01 00:00:00
abstract:BACKGROUND:The profile of cognitive and behavioral variation observed in individuals with fragile X syndrome (FXS), the most common known cause of inherited intellectual impairment, suggests aberrant functioning of specific brain systems. Research investigating animal models of FXS, characterized by limited or lack of ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/1866-1955-5-20
更新日期:2013-08-28 00:00:00
abstract:BACKGROUND:Alcohol related neurodevelopmental disorder (ARND) falls under the umbrella of fetal alcohol spectrum disorder (FASD), but individuals do not demonstrate the facial characteristics associated with fetal alcohol syndrome (FAS), making diagnosis difficult. While attentional problems in ARND are similar to thos...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/1866-1955-4-12
更新日期:2012-05-18 00:00:00
abstract:BACKGROUND:Fragile X syndrome (FXS) is a genetic disorder that is highly comorbid with anxiety and autism spectrum disorder (ASD). Elevated negative affect in young children has been associated with increased risk for both anxiety and ASD; however, these relations remain poorly understood in FXS. METHODS:The present p...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-019-9284-y
更新日期:2019-09-13 00:00:00
abstract:BACKGROUND:Various techniques in assisted reproductive technology (ART) have been developed as solutions for specific infertility problems. It is important to gain consensual conclusions on the actual risks of neurodevelopmental disorders among children who are born from ART. This study aimed to quantify the relative r...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章,评审
doi:10.1186/s11689-020-09347-w
更新日期:2020-12-13 00:00:00