Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review

Snihirova, Y. V.; Linden, David; Amelsvoort, Thérèse van; Meer, Dennis van der

doi:10.3390/genes13112003

Cited by 4 publications

(2 citation statements)

References 82 publications

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“…Results from the univariate regressions indicated that, among socio-environmental variables, family social class, caretaker educational level, and the patient's former type of school (private or public) were associated with IQ but not with adaptive behavior. Most studies have shown a stronger association with parental educational level than with family income [37][38][39]. It is possible, then, that in socially disadvantaged populations, higher financial support represents an additional factor in explaining intellectual variability.…”

Section: Discussionmentioning

confidence: 99%

“…However, the influence of socialenvironmental variables on phenotypic variability related to cognitive and behavioral skills has not yet been fully explored. Few studies have analyzed the effects of variables such as family socioeconomic status (SES) and caregivers' schooling [36][37][38][39]. This crosssectional and exploratory study investigated the neuropsychological profile of a sample of 25 patients with 22q11.2DS and associations among clinical, socioeconomic, and intellectual variables.…”

Section: Introductionmentioning

confidence: 99%

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Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables

Pimenta,

Mello,

Benedetto

et al. 2024

Genes

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The 22q11.2 deletion syndrome (22q11.2DS) is associated with a heterogeneous neurocognitive phenotype, which includes psychiatric disorders. However, few studies have investigated the influence of socioeconomic variables on intellectual variability. The aim of this study was to investigate the cognitive profile of 25 patients, aged 7 to 32 years, with a typical ≈3 Mb 22q11.2 deletion, considering intellectual, adaptive, and neuropsychological functioning. Univariate linear regression analysis explored the influence of socioeconomic variables on intellectual quotient (IQ) and global adaptive behavior. Associations with relevant clinical conditions such as seizures, recurrent infections, and heart diseases were also considered. Results showed IQ scores ranging from 42 to 104. Communication, executive functions, attention, and visuoconstructive skills were the most impaired in the sample. The study found effects of access to quality education, family socioeconomic status (SES), and caregiver education level on IQ. Conversely, age at diagnosis and language delay were associated with outcomes in adaptive behavior. This characterization may be useful for better understanding the influence of social-environmental factors on the development of patients with 22q11.2 deletion syndrome, as well as for intervention processes aimed at improving their quality of life.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables

Pimenta,

Mello,

Benedetto

et al. 2024

Genes

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Psychological Interventions for Individuals with 22q11.2 Deletion Syndrome: a Systematic Review

Campbell,

Corliss,

Green

et al. 2024

Adv Neurodev Disord

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Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features

Mira Coelho,

Dória

2023

AJPN

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Microdeletion 22q11.2 syndrome (22q11.2DS) is a common microdeletion syndrome, also described as DiGeorge syndrome (DGS). It has a prevalence estimated to be within 1 per 2148 livebirths. Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including autism spectrum disorder (ASD), schizophrenia, neurocognitive delay and other neuropsychiatric disorders. Sometimes is not easy to detect psychiatric diagnosis in developmental disorders, so it is important to look for psychiatric symptoms, etiological factors and clinical report about child development, including parent’s perceptions. We present a female adolescent patient with a mild cognitive delay, and underdiagnosed ASD, that had a microdeletion 22q11.2 Syndrome, identified at the first year of life. She was evaluated in psychiatric consultation only at 15 years, for psychotic symptomatology. At that time some ASD features were identified, and lately confirmed, with parental information and psychological evaluation instruments, like Autism Diagnostic Interview Revised (ADI-R). This paper aims to alert to the possibility of confluence of 22q11.2DS with ASD and psychotic symptoms, at the same time. We also want to enhance the importance of a multidisciplinary team in developmental disorders, paying attention to developmental report and parents ‘information, which may possibility early intervention and an accurate diagnosis.

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Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review

Cited by 4 publications

References 82 publications

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables

Psychological Interventions for Individuals with 22q11.2 Deletion Syndrome: a Systematic Review

Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features

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