scholarly journals Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Mendy M. Welsink-Karssies ◽  
Kim J. Oostrom ◽  
Merel E. Hermans ◽  
Carla E. M. Hollak ◽  
Mirian C. H. Janssen ◽  
...  

An amendment to this paper has been published and can be accessed via the original article.

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Mendy M. Welsink-Karssies ◽  
Kim J. Oostrom ◽  
Merel E. Hermans ◽  
Carla E. M. Hollak ◽  
Mirian C. H. Janssen ◽  
...  

Abstract Background Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and shows a substantially lower Full Scale Intelligence Quotient (FSIQ) in CG patients than in the general population. Both problems in social functioning as well as internalizing problems are often reported in CG patients. The combination of intelligence, cognitive functioning, behavior and social functioning has not been studied systematically in CG patients. Methods To determine if CG patients demonstrate a specific neuropsychological and psychosocial profile, we investigated intelligence, functioning on multiple cognitive domains, behavior and social functioning with a comprehensive neuropsychological test battery and questionnaires (self- and proxy-reported). Results The data of 48 patients, aged 4–47 years are reported. FSIQ ranged from 45 to 103 (mean 77 ± 14). A negative correlation between age and FSIQ was demonstrated (p = 0.037) which resulted directly from the inclusion of four young ‘milder’ patients detected by newborn screening (NBS) with an expected better clinical outcome. Compared to normative data, patients had significantly lower but highly variable scores on all cognitive domains, especially on tests requiring mental speed. In the context of the FSIQ, 43% of the cognitive test results exceeded IQ based expectations. Overall, the patients’ scores on social functioning were in the normal range but internalizing problems were frequently reported. In our cohort, an early initiation of dietary treatment due to NBS or family screening did not result in a more favorable neuropsychological outcome. Conclusions In this study, we demonstrated that as a cohort, CG patients have a below average intelligence and impaired cognitive functioning without a distinctive neuropsychological profile. The effect of age on neurocognitive functioning should be assessed in longitudinal studies. Social functioning was not impaired, but patients may be at risk for internalizing problems. Considering the large variability in cognitive, behavioral and social functioning and the finding that cognitive outcomes may exceed IQ based expectations, an individual evaluation and follow-up is warranted in all CG patients to ensure timely support if needed.


Autism ◽  
2021 ◽  
pp. 136236132110276
Author(s):  
Anke M Scheeren ◽  
J Marieke Buil ◽  
Patricia Howlin ◽  
Meike Bartels ◽  
Sander Begeer

Research has shown lower rates of employment and independent living in adults with autism. Many of these findings are based on cross-sectional studies, predominantly involving male participants. In a 6-year longitudinal study, we examined determinants of psychosocial outcomes in 917 adults with autism spectrum disorder (425 men, 492 women, mean age 43.5 years). Most were diagnosed in adulthood and had (above) average intellectual abilities. Via a yearly online survey, participants’ objective psychosocial functioning (based on employment, independent living and friendship) and subjective well-being were assessed. Averaged across the five waves of the study, 86% of the sample showed a fair to very good level of objective psychosocial functioning. Objective psychosocial functioning and subjective well-being were positively correlated, and both improved over time. Lower intellectual ability, more autism traits, co-occurring psychiatric conditions and younger age predicted poorer objective outcomes. More autism traits and co-occurring psychiatric conditions predicted lower subjective well-being. There were no gender differences in initial levels of, or changes in, objective and subjective outcomes over time. This study has identified important risk/protective factors for psychosocial outcomes across early and middle adulthood. In general, the findings offer a more positive outlook for adults with autism and average to high intellectual abilities. Lay abstract Previous research has shown that relatively few adults with autism have a paid job or live on their own. However, outcomes also vary a lot and may depend on many different factors. In this study, we examined the level of functioning and happiness of 917 adults with autism (425 men and 492 women) aged 18–65 years. Most of them were of average to high intellectual ability. Over 6 years, we measured whether they had a paid job, close friendships and lived on their own (i.e. their objective functioning). We also measured how happy they felt. Objectively, most autistic adults did fairly to very well. Those with better objective outcomes (e.g. those with paid work) also tended to be happier. Most adults improved in objective functioning and happiness over 6 years. Participants with a lower intellectual ability, more autism traits, mental health problems and younger age had poorer objective outcomes. Participants with more autism traits and mental health problems were less happy. Autistic men and women functioned at similar levels and were equally happy. We found important factors that predict a better (or worse) outcome for autistic adults. Overall, compared with some previous research, our findings give a more positive picture of the outcomes for autistic adults with average to high intellectual abilities.


1996 ◽  
Vol 2 (1) ◽  
pp. 9-22
Author(s):  
Nigel V. Marsh ◽  
James W. Webb

Recent studies on the rehabilitation of children with hydrocephalus have demonstrated the need for those planning such rehabilitation programmes to have a clear understanding of the neuropsychological and psychosocial aspects of this disorder. In an attempt to provide such information, the neuropsychological and psychosocial functioning of a group of 17 children with hydrocephalus between the ages of eight and fourteen years old was investigated. Performance by the sample with hydrocephalus was compared to that of a ‘normal’ control sample. Participants with hydrocephalus and control participants were matched on the variables of sex, age, years of education, and socio-economic status. Relative to control participants, the participants with hydrocephalus were impaired on measures of intellectual, attention, verbal and visual memory, and visuo-spatial abilities. Language alone was relatively preserved. The children with hydrocephalus also exhibited poorer self-esteem, fewer adaptive competencies, and more problem behaviours than the ‘normal’ controls. For the children with hydrocephalus, the relationship between their impaired intellectual abilities and their psychosocial functioning was investigated.


2020 ◽  
Vol 36 (1) ◽  
pp. 56-64
Author(s):  
Paul Bergmann ◽  
Cara Lucke ◽  
Theresa Nguyen ◽  
Michael Jellinek ◽  
John Michael Murphy

Abstract. The Pediatric Symptom Checklist-Youth self-report (PSC-Y) is a 35-item measure of adolescent psychosocial functioning that uses the same items as the original parent report version of the PSC. Since a briefer (17-item) version of the parent PSC has been validated, this paper explored whether a subset of items could be used to create a brief form of the PSC-Y. Data were collected on more than 19,000 youth who completed the PSC-Y online as a self-screen offered by Mental Health America. Exploratory factor analyses (EFAs) were first conducted to identify and evaluate candidate solutions and their factor structures. Confirmatory factor analyses (CFAs) were then conducted to determine how well the data fit the candidate models. Tests of measurement invariance across gender were conducted on the selected solution. The EFAs and CFAs suggested that a three-factor short form with 17 items is a viable and most parsimonious solution and met criteria for scalar invariance across gender. Since the 17 items used on the parent PSC short form were close to the best fit found for any subsets of items on the PSC-Y, the same items used on the parent PSC-17 are recommended for the PSC-Y short form.


2006 ◽  
Author(s):  
Kristina K. Hardy ◽  
Melanie J. Bonner ◽  
Katherine C. Hutchinson ◽  
Victoria W. Willard

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