Processamento auditivo, leitura e escrita na síndrome de Silver-Russell: relato de caso

Garcia, Patrícia Fernandes; Salvador, Karina Krähembühl; Moraes, Tamyne Ferreira Duarte de; Feniman, Mariza Ribeiro; Crenitte, Patrícia Abreu Pinheiro

doi:10.1590/s1516-80342012000100018

Cited by 2 publications

(4 citation statements)

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“…Previous studies have shown that individuals with SRS can have several difficulties related to attention and learning [39,40,43,46,[49][50][51][52]. These difficulties may result from troubles in…”

Section: Discussionmentioning

confidence: 99%

“…Indeed, as early as 1954, Russell reported cases of children showing signs of hyperactivity [75]. Subsequently, other researchers have reported attention/concentration and impulsivity difficulties [46], hyperactivity [39], and ADD/ADHD [49][50][51] have been observed in a few children with SRS. Thus, individuals with SRS could be at elevated risk of developing learning disabilities [76], or another neurodevelopmental disorder such as autism spectrum disorder [45] or ADD/ADHD.…”

Section: Plos Onementioning

confidence: 99%

“…Developmental delays and cognitive difficulties have also been reported in several SRS cases, ranging from mild motor or language delays to more persistent and severe difficulties [39]. Children with SRS, particularly those with UPD(7)mat, may have learning difficulties, particularly in reading, writing, and mathematics [43,46]. Children with UPD (7)mat are also at increased risk of developing autism spectrum disorders, verbal dyspraxia, and myoclonus-dystonia syndrome [35,45,47,48].…”

Section: Introductionmentioning

confidence: 99%

“…However, although difficulties have been reported among patients with SRS, they have rarely been thoroughly investigated. For example, little interest has been given to EFs and attention in SRS so far, even though impulsivity and reduced attention/concentration, attention deficit disorder (ADD) or attention-deficit/hyperactivity disorder (ADHD) have been observed in some children with SRS [39,46,[49][50][51]. ADHD is characterized by executive and attentional impairments.…”

Section: Introductionmentioning

confidence: 99%

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Executive functioning in adolescents and adults with Silver-Russell syndrome

Burgevin

Lacroix²,

Ollivier³

et al. 2023

PLoS ONE

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Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Knowledge of the neuropsychological profile of SRS remains sparse and incomplete even if several difficulties related to attention and learning have been reported both in the literature and by patients with SRS. These difficulties could be the result of troubles in different cognitive domains, but also of executive dysfunction. Nevertheless, executive functioning has never been investigated, even though executive functions play an essential role in psychological development, and are extensively involved in daily life. The present study explored the executive functioning of individuals with SRS due to UPD(7)mat or 11p15 LOM. A battery of executive tasks assessing cognitive flexibility, inhibitory control, and working memory, together with a task assessing sustained attention, was administered to 19 individuals with SRS (13–39 years) and 19 healthy controls. The Behavior Rating Inventory of Executive Function was also completed by the participants’ families. The results showed that participants with SRS had similar performance (z-scores) to our controls, in a context of normal intellectual efficiency. Group comparisons with Bayesian statistics showed a single difference between the 11p15 LOM and control groups: the completion time for part A of the Trail Making Test appeared to be longer in the 11p15 LOM group than in the control group. However, at the clinical level, several participants with SRS had clinically significant scores on various measures of EFs. Thus, the cognitive phenotype of SRS did not appear to be characterized by executive dysfunction, but individuals with SRS could be at high risk of developing executive dysfunction or attention-deficit/hyperactivity disorder. These results provide new insights into the neuropsychological profile of individuals with SRS.

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