Socio-emotional Problems in Children with CDG

Loo, Kim F. E. van de; Dongen, Lotte Van; Mohamed, Miski; Gardeitchik, Thatjana; Kouwenberg, Theodorus W; Wortmann, Saskia B.; Rodenburg, Richard J.; Lefeber, Dirk; Morava, Éva; Verhaak, Chris M.

doi:10.1007/8904_2013_233

Cited by 3 publications

(4 citation statements)

References 27 publications

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“…Whilst 37.9% of non-PMM2-CDG patients were diagnosed after six, only 17.2% of PMM2-CDG were diagnosed at the same age range [25]. Witters et al [29] and van de Loo et al [93] reported the same age range for the diagnosis of PMM2-CDG and other CDG, respectively: between 2 weeks and 21 years.…”

Section: Summary Of Demographic and Clinical Characteristicsmentioning

confidence: 98%

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Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

et al. 2022

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Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation. This study aimed to assemble and summarise available data on the epidemiology of CDG. Methods A set of keywords related to epidemiology and CDG was defined. The keywords were combined through a custom Python script, search through the MEDLINE database, using PubMed as the search engine. The script retrieved the correspondent MEDLINE data from each article, and the relevant information was exported. Next, inclusion and exclusion criteria were set and applied during the selection phase. Finally, epidemiology-related information was extracted and compiled. Results One hundred sixty-five papers on CDG epidemiology were included in this literature review. Most of them reported on the frequency of symptoms in CDG patients followed in cohort studies, on pathogenic variant allelic frequency, and on the prevalence of the disorder in populations. According to this review, the most reported CDG was phosphomannomutase-2 deficiency (PMM2-CDG) followed in descending order by FKTN-CDG, EXT1/EXT2-CDG, ALG6-CDG, and PIGA-CDG. Conclusions We provide an overview on epidemiological data regarding 93 CDG by compiling information from the literature. Generating epidemiological data on CDG is important to appropriately target resources for CDG research and drug development and to support public health decision-making.

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Section: Summary Of Demographic and Clinical Characteristicsmentioning

confidence: 98%

“…Four studies reported the mean or range of age at diagnosis [25,29,47,93], showing a propensity for young patients. For instance, Francisco et al [25] reported that 74% CDG patients were diagnosed before 5 years of age, and in 2000, 54% of diagnosed patients were below 10 years of age [168].…”

Section: Summary Of Demographic and Clinical Characteristicsmentioning

confidence: 99%

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

et al. 2022

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“…Endocrine disturbance and thrombotic complications are common at any age (Linssen et al 2013). Patients might have severe communication problems but a cheerful habitus (van de Loo et al 2013). Many patients survive to adulthood, losing the syndromal aspects of PMM2-CDG.…”

Section: Clinical Phenotype and Recognizable Phenotypes In Cdgs Involmentioning

confidence: 99%

Congenital disorders of glycosylation: new defects and still counting

Scott

Gadomski

Kozicz

et al. 2014

J of Inher Metab Disea

112

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Almost 50 inborn errors of metabolism have been described due to congenital defects in N-linked glycosylation. These phenotypically diverse disorders typically present as clinical syndromes, affecting multiple systems including the central nervous system, muscle function, transport, regulation, immunity, endocrine system, and coagulation. An increasing number of disorders have been discovered using novel techniques that combine glycobiology with next-generation sequencing or use tandem mass spectrometry in combination with molecular gene-hunting techniques. The number of “classic” congenital disorders of glycosylation (CDGs) due to N-linked glycosylation defects is still rising. Eight novel CDGs affecting N-linked glycans were discovered in 2013 alone. Newly discovered genes teach us about the significance of glycosylation in cell–cell interaction, signaling, organ development, cell survival, and mosaicism, in addition to the consequences of abnormal glycosylation for muscle function. We have learned how important glycosylation is in posttranslational modification and how glycosylation defects can imitate recognizable, previously described phenotypes. In many CDG subtypes, patients unexpectedly presented with long-term survival, whereas some others presented with nonsyndromic intellectual disability. In this review, recently discovered N-linked CDGs are described, with a focus on clinical presentations and therapeutic ideas. A diagnostic approach in unsolved N-linked CDG cases with abnormal transferrin screening results is also suggested.

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“…In more than two thirds of the children with CDG it was observed a variation in the abnormal behavior identification test -The Child Behavior Checklist (CBCL). The authors emphasize the importance of psychological screening tests among patients with disorders of glycosylation, as a group of an increased risk of developing socioemotional disorders, including depressive behavior [12].…”

Section: Genetic Causesmentioning

confidence: 99%

What causes depression in adults?

Bembnowska

Jośko-Ochojska

2015

Polish Journal of Public Health

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The problem of depression in adolescents is discussed increasingly more often. A lot of researchers devote their careers to investigating this subject. The issue becomes vital, since the number of young people with depressive symptoms is constantly on the rise. The diagnosis can be difficult, as many a time the changes so typical for the puberty period appear. They include mood swings, explosiveness, propulsion disorders, puissance, insomnia, concentration problems etc. These might be the first symptoms of depression as well. It is impossible to point to one cause of depression because it is a disease conditioned by many different factors, ranging from independent factors like genetic, biological, hormonal, through the influence of the family or the environment influence and socio-cultural components. Early depression symptoms, long time exposure to stress, challenges or adversities - things every young person has to deal with - are a breeding ground for risky behaviors among adolescents. Teens are more likely to reach for different kinds of stimulants like alcohol, cigarettes or drugs etc. It has also been proven that anti-health behaviors may cause depression in the future

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Socio-emotional Problems in Children with CDG

Cited by 3 publications

References 27 publications

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

Congenital disorders of glycosylation: new defects and still counting

What causes depression in adults?

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