Next Article in Journal
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease
Previous Article in Journal
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
Previous Article in Special Issue
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Genes
Volume 15
Issue 5
10.3390/genes15050595
genes-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles thumb_up
...
Endorse textsms
...
Comment
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

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

by
Larissa Salustiano Evangelista Pimenta
1,*,
Claudia Berlim de Mello
2,*,
Luciana Mello Di Benedetto
2,
Diogo Cordeiro de Queiroz Soares
1,
Leslie Domenici Kulikowski
1,
Anelisa Gollo Dantas
3,
Maria Isabel Melaragno
3 and
Chong Ae Kim
1
1
Genetics Unit, Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo 05403-000, Brazil
2
Departament of Psychobiology, Universidade Federal de São Paulo, São Paulo 04024-002, Brazil
3
Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo 04023-062, Brazil
*
Authors to whom correspondence should be addressed.
Genes 2024, 15(5), 595; https://doi.org/10.3390/genes15050595
Submission received: 19 February 2024 / Revised: 25 April 2024 / Accepted: 3 May 2024 / Published: 8 May 2024
(This article belongs to the Special Issue Phenotype and Pathogenetic Mechanisms in 22q11.2 Deletion/DiGeorge Syndrome)
Review Reports Versions Notes

Abstract

:
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.

1. Introduction

The 22q11.2 deletion syndrome (22q11.2DS), also known as DiGeorge syndrome, is caused by a submicroscopic deletion of the long arm of chromosome 22 (MIM #192430#188400). The estimated minimum prevalence of 22q11.2 deletions was 1 in 2148 (4.7 per 10,000) live births [1]. Most patients have approximately a ≈3 megabase (Mb) deletion, with less frequent occurrences of deletions of 2 Mb or about 1.5 Mb [1,2,3].
The main clinical conditions observed in 22q11.2DS deletion syndrome include congenital heart diseases, immunodeficiency from thymic hypoplasia/aplasia, velopharyngeal dysfunction (with or without cleft palate), and hypocalcemia resulting from hypoparathyroidism [1,2,3,4,5,6]. Patients with 22q11.2DS have a high risk of developing epilepsy [7], reported in 11% of cases [8]. However, convulsive episodes are also associated with hypocalcemia, reported in approximately 50% to 69% of patients; symptoms include seizures, tremors, or tetany [9].
Heterogeneity in intellectual performance has been reported by most studies describing the neurocognitive phenotype of 22q11.2DS [10,11]. The full intellectual quotient (IQ) typically ranges from 50 to 109 [10,11,12,13]. A borderline classification (IQ 70–85) is present in more than 50% of cases. Mild and moderate intellectual deficits (IQ 55 to 70) are present in 40% of cases [13,14], and severe levels (IQ < 35) are rare [14]. Only a small percentage of children and adolescents (approximately 15%) show average scores (IQ > 70) [10,11,12]. A significant discrepancy (three to eight points on the standard scale) between verbal and performance IQs is reported in almost 75% of individuals, with better performance in the verbal domain [10,11,15,16,17]. There is evidence of a decline in verbal IQ scores with age, possibly associated with the emergence of psychiatric symptoms [15,16,18].
Neuropsychological findings include deficits in a wide range of cognitive functions, such as attention, executive functioning, and visuospatial processing [11,17,19,20,21,22,23]. Correlates of cognitive and intellectual deficits have been attributed to volumetric alterations in patients with 22q11.2DS [24,25,26,27], as well as to the emergence of psychotic symptoms [18,28,29].
Descriptions of the neurocognitive profile of patients with 22q11.2DS usually focus on psychiatric symptoms [29]. This focus may be attributed to the higher incidence of psychiatric disorders in individuals with this syndrome compared to the general population, as well as to evidence of associations of genomic abnormalities identified by genetic molecular techniques [30]. The risk of schizophrenia has attracted particular interest since [28,29,30,31] it is reported in one-third of patients [31]. Anxiety disorder, depression, and bipolar mood disorder have also been reported [29]. Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) symptoms were most prevalent among children, while the rates of psychoses and mood disorders increased significantly during adolescence and adulthood [11,32,33,34,35].
Neuropsychological and neuropsychiatric characteristics have mainly been attributed to the severity of genetic and neurological conditions. However, the influence of social-environmental 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 cross-sectional and exploratory study investigated the neuropsychological profile of a sample of 25 patients with 22q11.2DS and associations among clinical, socioeconomic, and intellectual variables. The results may contribute to a better understanding of the neuropsychological phenotype in 22q11.2 deletion syndrome, as well as to the development of follow-up and intervention planning.

2. Materials and Methods

2.1. Participants

A sample of 25 patients with 22q11.2DS, of both sexes and aged between 7 and 32 years, participated in the study. All participants were recruited from reference clinical genetic centers affiliated with two Brazilian universities in Sao Paulo City. The diagnosis of 22q11.2DS was clinically established by a medical geneticist and confirmed by molecular investigation using the SALSA MLPA P250-B2 Di-George kit (MRC-Holland, Amsterdam, The Netherlands). All patients exhibited the typical ≈3 Mb deletion. None had been diagnosed with specific psychiatric disorders, including psychosis, at the time of assessment. Information related to access to healthcare indicated that all patients regularly attended medical check-ups at referral clinics and underwent multidisciplinary therapeutic follow-up, such as with psychologists, speech therapists, or occupational therapists.
The ethical committee of the Universidade de Sao Paulo approved this study (process 1088/43/12). Patients and their primary caregivers signed consent forms before the neuropsychological assessment. The entire examination (interviews and testing) was conducted by the main researcher, who is a clinical neuropsychologist.

2.2. Procedures

2.2.1. Social-Environmental and Clinical Variables

Social-environmental factors (caregiver years of schooling, access to quality education, literacy, multidisciplinary support), socioeconomic status (family SES), and clinical information (age at diagnosis, pregnancy and birth complications, health conditions, developmental delay, heart defects, and medication use) were obtained through interviews with the main caregivers, typically the mother.
Family socioeconomic status (SES) was categorized based on the household’s gross monthly income and the level of education of the family head, using the Brazilian Economic Classification Criteria [40]. Social classes ranged from B to C, corresponding to monthly incomes equivalent to USD 400 to 1000. Additionally, we considered the type of school the participant attended or had attended. Including the type of school (public or private) as a SES variable was motivated by the significant disparity in the quality of public education in Brazil.
Clinical variables were selected from the diagnostic checklist used by the medical genetic centers where the participants were recruited, in accordance with international guidelines [4,5].

2.2.2. Intellectual, Neuropsychological, and Behavioral Assessment

Intellectual performance was investigated by means of the Brazilian versions of the Wechsler’s Scales for Children (WISC-IV) [41] and adults (WAIS-III) [42], and of the Vineland Adaptive Behavior Scale (VABS-II) [43], answered by the main caretakers. All main indices (standard-scores) and subtests (scaled-scores) of the Wechsler’s scales were considered, as well as VABS main scores (standard-scores): Communication, Daily Living Skills, and Socialization.
The neuropsychological battery included only cognitive tasks that could be used independently of participants’ ages. The tests’ raw scores were transformed in z-scores and then in t-scores and analyzed descriptively. We used Brazilian norms whenever available.
Attentional functioning. Continuous Performance Test, 3rd edition—CPT-III [44]. The CPT-III is a computerized procedure widely used for the identification of attention-related problems and is considered as an important additional test for the diagnosis of attention deficit hyperactivity disorder (ADHD). It is used for individuals over 8 years of age. Scores included omissions, commissions, hit reaction time (HRT), and adaptation of reaction time differences in inter stimuli intervals (HIT RT ISI). These scores allow for the inferring of the presence of inattentiveness, impulsivity, deficits of sustained attention, or low vigilance.
Visuoconstructive skills and visual memory. The Copy of the Complex Figure of Rey was used for the assessment of visuoconstructive skills, as well as for visual long-term memory [45]. Number of elements correctly copied or recalled measured performance.
Long-term verbal memory. The Rey Auditory Verbal Learning Test (RAVLT) is one of the most frequently used tests in neuropsychological clinical practice [46]. Scores concerning serial recall, recall after interference, and delayed recall were considered for patients’ performance assessment.
Executive functions. The assessment of executive functioning was based on the inhibitory control and flexibility indexes of the Five Digits Test [47].

2.3. Data Analysis

Descriptive statistics were conducted for sociodemographic and clinical characterization of the sample. Exploratory linear regression models were tested in order to investigate which variables would be related to IQ and to the global score of Adaptive Behavior of the VABS-II. In these analyses, t-scores instead of standard-scores were used for comparison purposes. The adequacy of the models was evaluated by the normality of the residues observed in qqplot plots. All analyses were performed in RStudio, considering a significance level of 5%.

3. Results

The sociodemographic and clinical characteristics of the sample are presented in Table 1.
There was a high level of heterogeneity in ages, ranging from 7 to 32 years (22 pediatric participants and 3 adult participants), with a higher frequency of males (64%). Only three participants had a deletion inherited maternally; however, they were raised by grandparents or uncles.
Regarding the participants’ educational characteristics, the vast majority had less than 9 years of schooling. All families reported global academic problems, and 40% of the participants had received therapeutic or pedagogical support at least once in their lives. Only one participant did not attend school due to parental choice and a need for individualized attention.
Clinical information was obtained through interviews with families as well as from medical records. The diagnostic process, including molecular investigation, took approximately 10 years. Cardiac malformations, such as tetralogy of Fallot, interventricular communication defects, aortic stenosis, and truncus arteriosus, were present in 72% of the sample. Some patients underwent surgical interventions to correct these congenital heart defects, which were typically identified at birth. Other clinical problems were reported by caregivers. The most common issues in the first years of life included feeding problems, episodes of otitis media or pneumonia, seizures, and hypocalcemia. The majority of patients (68%) experienced neurodevelopmental delay, especially concerning language milestones.
Parents and adult participants reported several behavioral problems, such as anxiety, depressive mood, socialization difficulties, and impairments in emotional modulation. Long-term pharmacological treatment was reported in these cases, with the most common medications being fluoxetine, methylphenidate, risperidone, clonazepam, and chlorpromazine hydrochloride.
Out of the twenty-five participants recruited for the study, two 10-year-old boys exhibited severe cognitive impairments that hindered formal testing and were subsequently excluded from the sample. Therefore, 23 participants (14 male) underwent the full neuropsychological assessment. Table 2 presents the major intellectual indexes obtained using the WISC-IV and WAIS-III scales.
IQ scores ranged from average (maximum 104) to below-average (minimum 42) classification, with the mean falling into the below-average level (72.30 ± 15.1). Discrepancies among the main indexes of the Wechsler scales were more evident in children than in adult participants. On the WISC IV, the mean verbal comprehension index was higher (82.6 ± 18.8) than the remaining index scores. On the other hand, all results on the WAIS-III were classified at the borderline level. In general, performance on verbal tasks was substantially better than on nonverbal tasks. For eight participants (34.8%), all index scores were compatible with intellectual deficiency (standard scores < 70).
Regarding adaptive abilities, the communication index showed deficits, and all other domains scored in the borderline range (32.0 ± 12.1). Since VABS-II is a questionnaire answered by caregivers, all twenty-five participants were evaluated. The two participants who failed to respond to the intelligence test had the lowest scores.
In the neuropsychological assessment (see Table 3), of the twenty-three patients who underwent intellectual assessment, four did not complete all tasks due to behavioral problems or low adherence to the evaluation procedures. Therefore, some participants only partially completed the battery of tests.
Descriptive results of the whole sample showed average scores on sustained attention tests, indicating that, in general, participants were able to sustain focus for a longer period. Mean reaction times and the ability to adapt responses to changes in the speed of stimulus presentation were as expected based on age. However, the results revealed fluctuations in performance when tasks demanded a higher ability to resist distractions and control automatic responses. In verbal long-term memory tests, average results were observed, and repeated exposure to the material was beneficial.
On the other hand, the poorest results were observed on tasks related to visual short-term memory and visuoconstructive skills, as well as executive functioning. Therefore, nonverbal cognitive functions seem to constitute a cognitive domain of higher vulnerability in 22q11.2DS.
The results of the exploratory linear regression analyses are illustrated in Table 4.
Several socioeconomic status (SES) variables had significant effects on IQ. Firstly, the type of school had a notable effect (B = 10.00, p = 0.0075). It is important to note that in Brazil, there is a significant difference in the quality of education offered by private schools. IQ scores were 10.00 points higher among private school students (mean = 38.00, SD = 10.32) compared to those from public schools (mean = 28.00, SD = 5.94). Additionally, social class had an influence (B = −9.00, p = 0.0162): the number of individuals with an IQ score in the average range from classes C or D (mean = 28.00, SD = 6.22) was lower than those from classes A or B (mean = 37.00, SD = 10.23). Finally, there was an effect of caregiver education level, with each one-year increase in education increasing the IQ of 22q11.2DS patients by 1.02 points.
Regarding adaptive abilities, only clinical variables were significantly associated. There was an effect of developmental delay in childhood on global scores. Participants with a history of language delay in childhood had a lower global score (mean = 29.25, SD = 8.50) compared to those who did not (mean = 44.00, SD = 15.13). Additionally, there was an effect of age at diagnosis, with the global score being 0.73 points lower for each year until the diagnosis was made.

4. Discussion

The present cross-sectional and exploratory study investigated the neuropsychological profile of a sample of 25 Brazilian individuals diagnosed with 22q11.2DS, all undergoing follow-up in public referral services. We were particularly interested in investigating the extent to which socio-environmental factors (e.g., family income, access to quality education or multidisciplinary intervention) and clinical variables (e.g., age at diagnosis, heart defects) were associated with intellectual outcomes.
Regarding intellectual performance, our sample exhibited a full-scale IQ ranging from 49 to 104 (median 71). Previous studies have also reported IQ scores in the borderline range [10,11]. Only two participants exhibited a restricted cognitive repertoire that prevented formal testing, consistent with previous evidence suggesting that severe intellectual disability (IQ < 35) is uncommon in 22q11.2DS patients [14]. Both of these participants had a clinical history of neonatal complications, suggesting that cognitive impairments may be associated with neurological conditions rather than directly with genotypic-phenotypic associations in 22q11.2DS. In other words, severe intellectual disability could have arisen from secondary clinical problems, such as hypoxic-ischemic events during the neonatal period, cardiac surgeries, brain malformation (polymicrogyria), or neonatal seizures due to hypocalcemia, as reported in the literature [48].
Differences were observed in the intellectual performance of child and adult participants. Among the indexes of the WISC-IV scale, the highest scores were on the verbal comprehension index. A significant discrepancy between the verbal comprehension and perceptual organization indexes has been reported since the first studies on 22q11.2SD [10,12,13,17], particularly in pediatric samples [17]. Studies with larger cohorts of patients have reported declines, particularly in verbal IQ, with increasing age [17,18]. Our results, therefore, reinforce previous evidence that in individuals with 22q11.2DS, verbal reasoning may be better developed in early stages of development, while working memory [49,50], perceptual organization [12,13], and processing speed [51] constitute areas of cognitive weakness.
Regarding adaptive abilities, as reported by parents in the VABS-II scale, significant deficits were mainly detected in the domain of communication. In the remaining domains investigated, daily life activities and socialization, performance was at borderline levels. Adaptive impairments in adolescents and children with 22q11.2DS have been described, usually being worse in the communication domain [34,52]. Lower rates of adaptive behavior have been linked to lower intelligence performance and the presence of psychiatric symptoms [52]. It is also important to consider the role of social cognitive dysfunctions in communication skills. Recently, Jalal et al. (2021) reported in a sample of 50 individuals with 22q11.2SD that deficits in social inference and reciprocal social behavior were more prominent than those shown by individuals with first episode psychosis, clinical high-risk for psychosis, or autism spectrum disorder (mean age = 17.74 ± 5.18; females = 44.3%). Therefore, low language or communicative performance in 22q11.2SD may be explained by social cognitive dysfunctions rather than intellectual deficiency [53].
The neuropsychological profile of our sample of 22q11.2SD patients was characterized by extensive deficits in attentional functioning, including a distracted and impulsive behavioral profile, as well as difficulties in sustaining attention and vigilance. Many studies have described attention problems and an ADHD profile as part of the symptomatology in 22q11.2DS [19,32,54,55]. Significant discrepancies between visuospatial and verbal long-term memory were observed, with verbal memory skills being at average levels. This profile was also reported by previous studies that used similar tasks [56,57]. Worse performance on visual memory tasks may be attributed to visuoconstructive or executive function impairments characteristic of 22q11.2DS, as identified in our sample [11,49,58,59].
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. Additionally, Sashi et al. (2010) demonstrated a role of parental SES in behavioral outcomes in 22q11.2 DS [36].
Regarding the effects of clinical variables, neurodevelopmental delay and age at diagnosis were significantly associated only with adaptive behavior. It is well known that adaptive behavior and IQ, although correlated in typical development, may be dissociated in terms of functional outcomes, as observed in some neurodevelopmental disorders such as autism spectrum disorders [32,60,61]. Dissociations between cognitive skills are related to phenotypic characteristics. In 22q11.2DS, one of the most frequent phenotypic characteristics is language delay [62], as well as language disorders [63]. The implications of language functioning for intellectual development in 22q11.2DS have been investigated. Glaser et al. (2002) compared the performance of samples of children and adolescents with 22q11.2DS and controls with idiopathic developmental delay. The patients showed worse performance in terms of receptive language but not in expressive language when compared with IQ-matched control subjects. Other studies, however, did not identify a direct association between IQ and language deficits [63]. In other words, language dysfunction seems to be a core phenotypic characteristic of 22q11.2SD and therefore is less influenced by intellectual variability. Our results suggest that language may have an impact on overall adaptive behavior development but not on intellectual performance. Selective effects of age at diagnosis on adaptive behavior outcomes were also observed. An early age at diagnosis usually reflects a worse clinical condition. In previous studies, lower rates of adaptive behavior have been linked to low intelligence performance, higher ages, and the existence of psychiatric symptoms [34].
Our study possesses several limitations that restrict the generalizability of the results. The most significant limitation may be the extensive heterogeneity of the sample concerning age and socioeconomic conditions. Therefore, we must acknowledge that our conclusions regarding the effects of socioeconomic and clinical variables on the phenotypic variability in 22q11.2DS may primarily apply to developing countries, where social inequality and limited access to health resources and quality education prevail. Additionally, although the study only included patients without reported psychiatric symptoms, the absence of comprehensive psychiatric evaluations limits the diagnostic confirmation of these findings.
On the other hand, our study has strengths, including the fact that the sample was composed only of individuals with a typical deletion size of ≈3 Mb. It also finds relevance since it contributes to discussions about gene–environment interactions in the 22q11.2SD. For instance, it seems reinforced that the influence of genetic components must be analyzed in line with associated effects of socio-environmental variables, including access to quality of education and to health services. Considering such variables in clinical settings may facilitate a personalization of interventions for intellectual outcomes in this syndrome.

5. Conclusions

Our findings revealed that in a sample of individuals with 22q11.2DS, family income, educational level of the main caretaker, and access to quality education were significantly associated with IQ but not with adaptive behavior, regardless of age at assessment. On the other hand, age at diagnosis and language delay were associated with outcomes in adaptive behavior but not with IQ. These findings indicate that individuals from families living in environments with a greater degree of social vulnerability are at a higher risk for intellectual outcomes. Further studies are necessary for a better understanding of the influence of social-environmental factors on intellectual phenotypic variability in 22q11.2DS.

Author Contributions

Conceptualization, L.S.E.P., C.B.d.M., C.A.K. and M.I.M.; methodology, L.S.E.P. and C.B.d.M.; clinical investigation, L.S.E.P., L.M.D.B., D.C.d.Q.S., L.D.K. and A.G.D.; writing—original draft preparation, L.S.E.P. and C.B.d.M.; writing—review and editing, L.S.E.P., C.B.d.M., C.A.K. and M.I.M.; supervision, C.B.d.M., C.A.K. and M.I.M.; project administration, L.S.E.P. and C.B.d.M. All authors have read and agreed to the published version of the manuscript.

Funding

This research received no external funding.

Institutional Review Board Statement

The study was conducted in accordance with the Declaration of Helsinki, and approved by the Ethics Committee Board of the State University of São Paulo (CAAE number: 20258813.4.0000.0068—approved on 23 September 2020).

Informed Consent Statement

Informed consent was obtained from all subjects involved in the study.

Data Availability Statement

The data supporting this study’s findings are available from the corresponding author upon reasonable request.

Conflicts of Interest

The authors declare no conflicts of interest.

References

  1. Blagojevic, C.; Heung, T.; Theriault, M.; Tomita-Mitchell, A.; Chakraborty, P.; Kernohan, K.; Bulman, D.E.; Bassett, A.S. Estimate of the Contemporary Live-Birth Prevalence of Recurrent 22q11.2 Deletions: A Cross-Sectional Analysis from Population-Based Newborn Screening. CMAJ Open 2021, 9, E802–E809. [Google Scholar] [CrossRef] [PubMed]
  2. McDonald-McGinn, D.M.; Sullivan, K.E.; Marino, B.; Philip, N.; Swillen, A.; Vorstman, J.A.S.; Zackai, E.H.; Emanuel, B.S.; Vermeesch, J.R.; Morrow, B.E.; et al. 22q11.2 Deletion Syndrome. Nat. Rev. Dis. Primers 2015, 1, 15071. [Google Scholar] [CrossRef] [PubMed]
  3. Smyk, M.; Geremek, M.; Ziemkiewicz, K.; Gambin, T.; Kutkowska-Kaźmierczak, A.; Kowalczyk, K.; Plaskota, I.; Wiśniowiecka-Kowalnik, B.; Bartnik-Głaska, M.; Niemiec, M.; et al. Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome. Genes 2023, 14, 680. [Google Scholar] [CrossRef] [PubMed]
  4. Shprintzen, R.J. Velo-Cardio-Facial Syndrome: A Distinctive Behavioral Phenotype. Ment. Retard. Dev. Disabil. Res. Rev. 2000, 6, 142–147. [Google Scholar] [CrossRef] [PubMed]
  5. Monteiro, F.P.; Vieira, T.P.; Sgardioli, I.C.; Molck, M.C.; Damiano, A.P.; Souza, J.; Monlleó, I.L.; Fontes, M.I.B.; Fett-Conte, A.C.; Félix, T.M.; et al. Defining New Guidelines for Screening the 22q11.2 Deletion Based on a Clinical and Dysmorphologic Evaluation of 194 Individuals and Review of the Literature. Eur. J. Pediatr. 2013, 172, 927–945. [Google Scholar] [CrossRef] [PubMed]
  6. Silva, I.M.W.; Gil-da-Silva-Lopes, V.L. An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome until Diagnosis. Orphanet J. Rare Dis. 2022, 17, 67. [Google Scholar] [CrossRef] [PubMed]
  7. AlKalaf, H.Y.; AlHashem, A.M.; AlSaleh, N.S.; AlJohar, N.M.; Abo Thneen, A.M.; ElGhezal, H.M.; Bouhjar, I.B.; Tlili-Graiess, K.; Sahari, A.H.; Tabarki, B.M. Epilepsy, Neuropsychiatric Phenotypes, Neuroimaging Findings, and Genotype-Neurophenotype Correlation in 22q11.2 Deletion Syndrome. Neurosciences 2020, 25, 287–291. [Google Scholar] [CrossRef] [PubMed]
  8. Eaton, C.B.; Thomas, R.H.; Hamandi, K.; Payne, G.C.; Kerr, M.P.; Linden, D.E.J.; Owen, M.J.; Cunningham, A.C.; Bartsch, U.; Struik, S.S.; et al. Epilepsy and Seizures in Young People with 22q11.2 Deletion Syndrome: Prevalence and Links with Other Neurodevelopmental Disorders. Epilepsia 2019, 60, 818. [Google Scholar] [CrossRef] [PubMed]
  9. Cirillo, A.; Lioncino, M.; Maratea, A.; Passariello, A.; Fusco, A.; Fratta, F.; Monda, E.; Caiazza, M.; Signore, G.; Esposito, A.; et al. Clinical Manifestations of 22q11.2 Deletion Syndrome. Heart Fail. Clin. 2022, 18, 155–164. [Google Scholar] [CrossRef]
  10. Zhao, Y.; Guo, T.; Fiksinski, A.; Breetvelt, E.; McDonald-McGinn, D.M.; Crowley, T.B.; Diacou, A.; Schneider, M.; Eliez, S.; Swillen, A.; et al. Variance of IQ Is Partially Dependent on Deletion Type among 1,427 22q11.2 Deletion Syndrome Subjects. Am. J. Med. Genet. A 2018, 176, 2172–2181. [Google Scholar] [CrossRef]
  11. Lorena, J.E.; Sandra, P.R. Description of Neuropsychological Profile in Patients with 22q11 Syndrome. Genes 2023, 14, 1347. [Google Scholar] [CrossRef] [PubMed]
  12. De Smedt, B.; Devriendt, K.; Fryns, J.-P.; Vogels, A.; Gewillig, M.; Swillen, A. Intellectual Abilities in a Large Sample of Children with Velo?Cardio?Facial Syndrome: An Update. J. Intellect. Disabil. Res. 2007, 51, 666–670. [Google Scholar] [CrossRef] [PubMed]
  13. Jacobson, C.; Shearer, J.; Habel, A.; Kane, F.; Tsakanikos, E.; Kravariti, E. Core Neuropsychological Characteristics of Children and Adolescents with 22q11.2 Deletion. J. Intellect. Disabil. Res. 2010, 54, 701–713. [Google Scholar] [CrossRef] [PubMed]
  14. Niklasson, L.; Rasmussen, P.; Óskarsdóttir, S.; Gillberg, C. Autism, ADHD, Mental Retardation and Behavior Problems in 100 Individuals with 22q11 Deletion Syndrome. Res. Dev. Disabil. 2009, 30, 763–773. [Google Scholar] [CrossRef] [PubMed]
  15. Carmel, M.; Zarchi, O.; Michaelovsky, E.; Frisch, A.; Patya, M.; Green, T.; Gothelf, D.; Weizman, A. Association of COMT and PRODH Gene Variants with Intelligence Quotient (IQ) and Executive Functions in 22q11.2DS Subjects. J. Psychiatr. Res. 2014, 56, 28–35. [Google Scholar] [CrossRef] [PubMed]
  16. Vorstman, J.A.S.; Breetvelt, E.J.; Duijff, S.N.; Eliez, S.; Schneider, M.; Jalbrzikowski, M.; Armando, M.; Vicari, S.; Shashi, V.; Hooper, S.R.; et al. Cognitive Decline Preceding the Onset of Psychosis in Patients with 22q11.2 Deletion Syndrome. JAMA Psychiatry 2015, 72, 377–385. [Google Scholar] [CrossRef] [PubMed]
  17. Moberg, P.J.; Richman, M.J.; Roalf, D.R.; Morse, C.L.; Graefe, A.C.; Brennan, L.; Vickers, K.; Tsering, W.; Kamath, V.; Turetsky, B.I.; et al. Neurocognitive Functioning in Patients with 22q11.2 Deletion Syndrome: A Meta-Analytic Review A Systematic Review of Cross-Sectional Studies Comparing Neuropsychological Performance of HHS Public Access. Behav. Genet. 2018, 48, 259–270. [Google Scholar] [CrossRef] [PubMed]
  18. Gur, R.E.; Roalf, D.R.; Alexander-Bloch, A.; McDonald-McGinn, D.M.; Gur, R.C. Pathways to Understanding Psychosis through Rare—22q11.2DS—and Common Variants. Curr. Opin. Genet. Dev. 2021, 68, 35–40. [Google Scholar] [CrossRef] [PubMed]
  19. de Sonneville, L.M.J.; Hidding, E.; van Engeland, H.; Vorstman, J.A.S.; Sijmens-Morcus, M.E.J.; Swaab, H. Executive Functioning and Its Relation to ASD and ADHD Symptomatology in 22q11.2 Deletion Syndrome. Child Neuropsychol. 2018, 24, 1–19. [Google Scholar] [CrossRef]
  20. Everaert, E.; Vorstman, J.A.S.; Selten, I.S.; Slieker, M.G.; Wijnen, F.; Boerma, T.D.; Houben, M.L. Executive Functioning in Preschoolers with 22q11.2 Deletion Syndrome and the Impact of Congenital Heart Defects. J. Neurodev. Disord. 2023, 15, 15. [Google Scholar] [CrossRef]
  21. Simon, T.J.; Bearden, C.E.; McDonald Mc-Ginn, D.; Zackai, E. Visuospatial and Numerical Cognitive Deficits in Children with Chromosome 22q11.2 Deletion Syndrome. Cortex 2005, 41, 145–155. [Google Scholar] [CrossRef] [PubMed]
  22. Azuma, R.; Daly, E.M.; Campbell, L.E.; Stevens, A.F.; Deeley, Q.; Giampietro, V.; Brammer, M.J.; Glaser, B.; Ambery, F.Z.; Morris, R.G.; et al. Visuospatial Working Memory in Children and Adolescents with 22q11.2 Deletion Syndrome; an FMRI Study. J. Neurodev. Disord. 2009, 1, 46–60. [Google Scholar] [CrossRef]
  23. Niarchou, M.; Chawner, S.J.R.A.; Fiksinski, A.; Vorstman, J.A.S.; Maeder, J.; Schneider, M.; Eliez, S.; Armando, M.; Pontillo, M.; Vicari, S.; et al. Attention Deficit Hyperactivity Disorder Symptoms as Antecedents of Later Psychotic Outcomes in 22q11.2 Deletion Syndrome. Schizophr. Res. 2019, 204, 320–325. [Google Scholar] [CrossRef] [PubMed]
  24. Smerconish, S.; Schmitt, J.E. Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome. Genes 2024, 15, 440. [Google Scholar] [CrossRef] [PubMed]
  25. Barnea-Goraly, N.; Menon, V.; Krasnow Alex Ko, B.; Allan Reiss, B.; Eliez, S. Investigation of White Matter Structure in Velocardiofacial Syndrome: A Diffusion Tensor Imaging Study. Am. J. Psychiatry 2003, 160, 1863–1869. [Google Scholar] [CrossRef] [PubMed]
  26. Sun, D.; Ching, C.R.K.; Lin, A.; Forsyth, J.K.; Kushan, L.; Vajdi, A.; Jalbrzikowski, M.; Hansen, L.; Villalon-Reina, J.E.; Qu, X.; et al. Large-Scale Mapping of Cortical Alterations in 22q11.2 Deletion Syndrome: Convergence with Idiopathic Psychosis and Effects of Deletion Size. Mol. Psychiatry 2020, 25, 1822–1834. [Google Scholar] [CrossRef] [PubMed]
  27. Ge, R.; Ching, C.R.K.; Bassett, A.S.; Kushan, L.; Antshel, K.M.; van Amelsvoort, T.; Bakker, G.; Butcher, N.J.; Campbell, L.E.; Chow, E.W.C.; et al. Source-Based Morphometry Reveals Structural Brain Pattern Abnormalities in 22q11.2 Deletion Syndrome. Hum. Brain Mapp. 2024, 45, e26553. [Google Scholar] [CrossRef] [PubMed]
  28. Bagautdinova, J.; Zöller, D.; Schaer, M.; Padula, M.C.; Mancini, V.; Schneider, M.; Eliez, S. Altered Cortical Thickness Development in 22q11.2 Deletion Syndrome and Association with Psychotic Symptoms. Mol. Psychiatry 2021, 26, 7671. [Google Scholar] [CrossRef]
  29. Tang, S.X.; Gur, R.E. Longitudinal Perspectives on the Psychosis Spectrum in 22q11.2 Deletion Syndrome. Am. J. Med. Genet. A 2017, 176, 2192–2202. [Google Scholar] [CrossRef] [PubMed]
  30. Qin, X.; Chen, J.; Zhou, T. 22q11.2 Deletion Syndrome and Schizophrenia. Acta Biochim. Biophys. Sin. 2020, 52, 1181–1190. [Google Scholar] [CrossRef]
  31. Schneider, M.; Schaer, M.; Mutlu, A.K.; Menghetti, S.; Glaser, B.; Debbané, M.; Eliez, S. Clinical and Cognitive Risk Factors for Psychotic Symptoms in 22q11.2 Deletion Syndrome: A Transversal and Longitudinal Approach. Eur. Child Adolesc. Psychiatry 2014, 23, 425–436. [Google Scholar] [CrossRef] [PubMed]
  32. Hidding, E.; Swaab, H.; de Sonneville, L.M.J.; van Engeland, H.; Sijmens-Morcus, M.E.J.; Klaassen, P.W.J.; Duijff, S.N.; Vorstman, J.A.S. Intellectual Functioning in Relation to Autism and ADHD Symptomatology in Children and Adolescents with 22q11.2 Deletion Syndrome. J. Intellect. Disabil. Res. 2015, 59, 803–815. [Google Scholar] [CrossRef] [PubMed]
  33. Schneider, M.; Van der Linden, M.; Menghetti, S.; Debbané, M.; Eliez, S. Negative and Paranoid Symptoms Are Associated with Negative Performance Beliefs and Social Cognition in 22q11.2 Deletion Syndrome. Early Interv. Psychiatry 2017, 11, 156–164. [Google Scholar] [CrossRef] [PubMed]
  34. Fabbro, A.; Rizzi, E.; Schneider, M.; Debbane, M.; Eliez, S. Depression and Anxiety Disorders in Children and Adolescents with Velo-Cardio-Facial Syndrome (VCFS). Eur. Child Adolesc. Psychiatry 2012, 21, 379–385. [Google Scholar] [CrossRef] [PubMed]
  35. Uljarević, M.; McCabe, K.L.; Angkustsiri, K.; Simon, T.J.; Hardan, A.Y. Interrelationship Between Cognitive Control, Anxiety, and Restricted and Repetitive Behaviors in Children with 22q11.2 Deletion Syndrome. Autism Res. 2019, 12, 1737–1744. [Google Scholar] [CrossRef] [PubMed]
  36. Shashi, V.; Veerapandiyan, A.; Schoch, K.; Kwapil, T.; Keshavan, M.; Ip, E.; Hooper, S. Social Skills and Associated Psychopathology in Children with Chromosome 22q11.2 Deletion Syndrome: Implications for Interventions. J. Intellect. Disabil. Res. 2012, 56, 865–878. [Google Scholar] [CrossRef] [PubMed]
  37. Klaassen, P.; Duijff, S.; Swanenburg de Veye, H.; Beemer, F.; Sinnema, G.; Breetvelt, E.; Schappin, R.; Vorstman, J. Explaining the Variable Penetrance of CNVs: Parental Intelligence Modulates Expression of Intellectual Impairment Caused by the 22q11.2 Deletion. Am. J. Med. Genet. Part. B Neuropsychiatr. Genet. 2016, 171, 790–796. [Google Scholar] [CrossRef] [PubMed]
  38. Olszewski, A.K.; Radoeva, P.D.; Fremont, W.; Kates, W.R.; Antshel, K.M. Is Child Intelligence Associated with Parent and Sibling Intelligence in Individuals with Developmental Disorders? An Investigation in Youth with 22q11.2 Deletion (Velo-Cardio-Facial) Syndrome. Res. Dev. Disabil. 2014, 35, 3582–3590. [Google Scholar] [CrossRef] [PubMed]
  39. Snihirova, Y.; Linden, D.E.J.; van Amelsvoort, T.; van der Meer, D. Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review. Genes 2022, 13, 2003. [Google Scholar] [CrossRef]
  40. ABEP. Brazilian Association of Research Companies. Economic Classification Criterion Brazil; São Paulo, Brazil. 2020. Available online: https://www.abep.org (accessed on 18 February 2024).
  41. Wechsler, D. Escala Wechsler de Inteligência Para Crianças: (WISC IV): Manual de Instruções Para Aplicação e Avaliação, 4th ed.; Duprat, M.L., Ed.; Casa do Psicólogo: São Paulo, Brazil, 2013. [Google Scholar]
  42. Wechsler, D. WAIS-III: Escala de Inteligência Para Adultos: Manual/David Eschesler. In Adaptação e Padronização de Uma Amostra Basileira; Nascimento, E.D., Ed.; de Vilhena Moraes Silva, M.C., Translator; Casa do Psicólogo: São Paulo, Brazil, 1997. [Google Scholar]
  43. Sparrow, S.; Cicchetti, D.V.; Balla, D.A. Vineland II—Adaptative Behavior Scales: Survey Forms Manual, 3rd ed.; AGS Publishing: Circle Pines, MN, USA, 2016. [Google Scholar]
  44. Conners, C.K. Continuous Performance Test, 3rd ed.; Multi-Health System: Toronto, ON, Canada, 2014. [Google Scholar]
  45. Oliveira, M.S. Figuras Complexas de Rey: Teste de Cópia e de Reprodução de Memória de Figuras Geométricas Complexas. In Manual André Rey; Rey, T., Franco, L.C.F., Eds.; Rey, T.; Franco, L.C.F., Translators; Casa do Psicólogo: São Paulo, Brazil, 1999. [Google Scholar]
  46. Paula, J.J.; Malloy-Diniz, L.F. Teste de Aprendizagem Autitivo-Verbal de Rey (RAVLT): Livro de Instruções/Jonas Jardim de Paula, Lenadro Fernandes Malloy-Diniz, 1st ed.; Vetor: São Paulo, Brazil, 2018. [Google Scholar]
  47. Sedó, M.A. FDT: Test de Los Cinco Digitos; TEA Ediciones: Madrid, Spain, 2007. [Google Scholar]
  48. Cheung, E.N.M.; George, S.R.; Andrade, D.M.; Chow, E.W.C.; Silversides, C.K.; Bassett, A.S. Neonatal Hypocalcemia, Neonatal Seizures, and Intellectual Disability in 22q11.2 Deletion Syndrome. Genet. Med. 2014, 16, 40–44. [Google Scholar] [CrossRef]
  49. Wong, L.M.; Riggins, T.; Harvey, D.; Cabaral, M.; Simon, T.J. Children with Chromosome 22q11.2 Deletion Syndrome Exhibit Impaired Spatial Working Memory. Am. J. Intellect. Dev. Disabil. 2014, 119, 115–132. [Google Scholar] [CrossRef] [PubMed]
  50. Sanders, A.F.P.; Hobbs, D.A.; Stephenson, D.D.; Laird, R.D.; Beaton, E.A. Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology. J. Autism Dev. Disord. 2017, 47, 992–1005. [Google Scholar] [CrossRef] [PubMed]
  51. Kates, W.R.; Russo, N.; Wood, W.M.; Antshel, K.M.; Faraone, S.V.; Fremont, W.P. Neurocognitive and Familial Moderators of Psychiatric Risk in Velocardiofacial (22q11.2 Deletion) Syndrome: A Longitudinal Study. Psychol. Med. 2015, 45, 1629–1639. [Google Scholar] [CrossRef] [PubMed]
  52. Dewulf, D.; Noens, I.; Swillen, A. Adaptive Skills, Cognitive Functioning and Behavioural Problems in Adolescents with 22q11.2 Deletion Syndrome. Tijdschr. Psychiatr. 2013, 55, 369–374. [Google Scholar] [PubMed]
  53. Jalal, R.; Nair, A.; Lin, A.; Eckfeld, A.; Kushan, L.; Zinberg, J.; Karlsgodt, K.H.; Cannon, T.D.; Bearden, C.E. Social Cognition in 22q11.2 Deletion Syndrome and Idiopathic Developmental Neuropsychiatric Disorders. J. Neurodev. Disord. 2021, 13, 1–15. [Google Scholar] [CrossRef]
  54. Hooper, S.R.; Curtiss, K.; Schoch, K.; Keshavan, M.S.; Allen, A.; Shashi, V. A Longitudinal Examination of the Psychoeducational, Neurocognitive, and Psychiatric Functioning in Children with 22q11.2 Deletion Syndrome. Res. Dev. Disabil. 2013, 34, 1758–1769. [Google Scholar] [CrossRef]
  55. Radoeva, P.D. 22q11.2 Deletion Syndrome: Characterization of Psychosis Spectrum and Future Directions. Biol. Psychiatry 2017, 82, e5–e7. [Google Scholar] [CrossRef] [PubMed]
  56. Bearden, C.E.; Woodin, M.F.; Wang, P.P.; Moss, E. The Neurocognitive Phenotype of the 22q11.2 Deletion Syndrome: Selective Deficit in Visual-Spatial Memory. J. Clin. Exp. Neuropsychol. 2001, 23, 447–464. [Google Scholar] [CrossRef] [PubMed]
  57. Lajiness-O’Neill, R.; Beaulieu, I.; Titus, J.; Asamoah, A.; Bigler, E.; Bawle, E.; Pollack, R. Memory and Learning in Children with 22q11.2 Deletion Syndrome: Evidence for Ventral and Dorsal Stream Disruption? Child Neuropsychol. 2005, 11, 55–71. [Google Scholar] [CrossRef]
  58. Campbell, L.E.; Azuma, R.; Ambery, F.; Stevens, A.; Smith, A.; Morris, R.G.; Murphy, D.G.M.; Murphy, K.C. Executive Functions and Memory Abilities in Children With 22q11.2 Deletion Syndrome. Aust. N. Z. J. Psychiatry 2010, 44, 364–371. [Google Scholar] [CrossRef]
  59. Vicari, S.; Mantovan, M.; Addona, F.; Costanzo, F.; Verucci, L.; Menghini, D. Neuropsychological Profile of Italian Children and Adolescents with 22q11.2 Deletion Syndrome with and Without Intellectual Disability. Behav. Genet. 2012, 42, 287–298. [Google Scholar] [CrossRef] [PubMed]
  60. Fiksinski, A.M.; Breetvelt, E.J.; Duijff, S.N.; Bassett, A.S.; Kahn, R.S.; Vorstman, J.A.S. Autism Spectrum and Psychosis Risk in the 22q11.2 Deletion Syndrome. Findings from a Prospective Longitudinal Study. Schizophr. Res. 2017, 188, 59–62. [Google Scholar] [CrossRef] [PubMed]
  61. Antshel, K.M.; Aneja, A.; Strunge, L.; Peebles, J.; Fremont, W.P.; Stallone, K.; AbdulSabur, N.; Higgins, A.M.; Shprintzen, R.J.; Kates, W.R. Autistic Spectrum Disorders in Velo-Cardio Facial Syndrome (22q11.2 Deletion). J. Autism Dev. Disord. 2007, 37, 1776–1786. [Google Scholar] [CrossRef] [PubMed]
  62. Glaser, B.; Mumme, D.L.; Blasey, C.; Morris, M.A.; Dahoun, S.P.; Antonarakis, S.E.; Reiss, A.L.; Eliez, S. Language Skills in Children with Velocardiofacial Syndrome (Deletion 22q11.2). J. Pediatr. 2002, 140, 753–758. [Google Scholar] [CrossRef]
  63. Van Den Heuvel, E.; Manders, E.; Swillen, A.; Zink, I. Atypical Language Characteristics and Trajectories in Children with 22q11.2 Deletion Syndrome. J. Commun. Disord. 2018, 75, 37–56. [Google Scholar] [CrossRef]
Table 1. Sociodemographic and clinical variables of the 22q11.2DS sample (n = 25).
Table 1. Sociodemographic and clinical variables of the 22q11.2DS sample (n = 25).
Sociodemographic VariablesMin/Max 1Mean ± SDMedian
Age at assessment7/3213.5 ± 5.013.0
Years of schooling2/117.0 ± 2.57.0
Caretaker years of schooling6/2411.6 ± 4.211.0
Gendern (%)
Male16 (64)
09 (36)
Type of school
Public17 (68)
Private08 (32)
Literate20 (80)
Specialized support10 (40)
Family social class
A4 (16)
B6 (24)
C10 (40)
D5 (20)
Clinical VariablesMin/Max 1Mean ± SDMedian
Age at diagnosis1/329.9 ± 7.210.0
n (%)
Pregnancy problems6 (24)
Birth problems12 (48)
Poor health conditions18 (72)
Language delay17 (68)
Heart defects18 (72)
Use of psychotropic medications4 (16)
De novo deletion22 (88)
1 Min = minimum; Max = maximum.
Table 2. Wechsler intelligence scale (n = 23) and Adaptive Behavior (n = 25) scores observed in the sample of 22q11.2DS deletion syndrome patients.
Table 2. Wechsler intelligence scale (n = 23) and Adaptive Behavior (n = 25) scores observed in the sample of 22q11.2DS deletion syndrome patients.
Min/Max 4Mean ± SDMedian
FSIQ 1 42/10472.3 ± 15.171.0
WISC-IV
Verbal comprehension49/11982.6 ± 18.882.0
Perceptual organization49/10475.6 ± 14.574.0
Working memory45/10974.8 ± 20.674.0
Processing speed45/11172.6 ± 18.275.5
WAIS-III
PIQ 268/7571.3 ± 3.571.0
VIQ 372/7774.7 ± 2.575.0
Vineland-II
Communication21/10367.8 ± 18.364.0
Daily living skills38/12574.0 ± 21.168.0
Socialization42/13677.1 ± 22.769.0
Adaptive Behavior composite36/12672.6 ± 19.767.0
1 FSIQ = full-scale IQ; 2 PIQ = performance IQ; 3 VIQ = verbal IQ; 4 Min = minimum; Max = maximum.
Table 3. Descriptive data of neuropsychological functioning in the sample of patients with 22q11.2DS (results in t-scores).
Table 3. Descriptive data of neuropsychological functioning in the sample of patients with 22q11.2DS (results in t-scores).
Min-MaxMean ± SDMedian
Attentional functioning/CPT 1 (n = 20)
Omissions41/9060.0 ± 13.356.0
Commissions36/8458.4 ± 12.458.0
Hit reaction time (HRT)32/8353.5 ± 13.052.0
Perseverations45/9065.3 ± 16.464.0
HRT block change40/7656.6 ± 10.957.0
HRT ISI change25/6846.1 ± 12.143.0
Visuoconstructive skills (n = 20)
Copy of the complex Figure of Rey20/7828.8 ± 14.320.0
Visual short-term memory (n = 20)
Corsi Block backwards20/5834.7 ± 11.331.5
Verbal episodic memory/RAVLT 2 (n = 21)
Serial recall20/6842.8 ± 14.743.0
Delayed recall20/6344.7 ± 13.248.0
Recognition (list A)42/5841.3 ± 4.450.0
Executive function/FDT 3 (n = 19)
Inhibition index20/6635.2 ± 15.631.0
Flexibility index20/6136.7 ± 15.736.0
1 Continuous Performance Test; 2 Rey Auditory Verbal Learning Test; 3 Five Digits Test.
Table 4. Regression analysis.
Table 4. Regression analysis.
VariablesIQGlobal Adaptive Behavior Scores
BSE95 CIpBSE95 CIp
Caretaker years of schooling1.020.460.062; 1.980.0381 *0.630.66−0.75; 2.010.350
Gender 1−4.243.92−12.38; 3.910.2922.765.18−7.99; 13.500.600
Type of school 310.003.381.33; 17.330.0075 *2.765.18−7.99; 13.500.600
Literate 2−9.875.42−21.14; 1.410.083−6.906.61−20.62; 6.820.308
Specialized support 2−1.214.52−10.71; 8.290.7926.535.32−4.56; 17.650.234
Family social class 4−9.003.44−16.16; −1.840.0162 *−9.094.74−18.92; 0.750.0685
Age at diagnosis−0.310.27−0.87; 0.240.256−0.730.33−1.41; −0.0430.0383 *
Pregnancy problems 21.525.02−8.98; 12.030.7655.105.95−7.31; 17.520.401
Birth problems 20.504.29−8.48; 9.480.9086.645.19−4.19; 17.460.216
Health conditions 2−5.724.86−15.89; 4.440.2537.966.19−4.94; 20.870.213
Language delay 25.734.39−3.45; 14.910.20714.755.054.21; 25.290.0085 *
Heart defects 2−0.894.88−11.09; 9.290.8573.946.25−9.06; 16.950.535
Use of psychotropic medications 2−2.835.15−13.3; 7.870.5886.006.65−7.80; 19.800.377
1 Female; 2 No; 3 Private; 4 C or D; * p < 0.05.
Disclaimer/Publisher’s Note: The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content.

Share and Cite

MDPI and ACS Style

Pimenta, L.S.E.; Mello, C.B.d.; Benedetto, L.M.D.; Soares, D.C.d.Q.; Kulikowski, L.D.; Dantas, A.G.; Melaragno, M.I.; Kim, C.A. Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables. Genes 2024, 15, 595. https://doi.org/10.3390/genes15050595

AMA Style

Pimenta LSE, Mello CBd, Benedetto LMD, Soares DCdQ, Kulikowski LD, Dantas AG, Melaragno MI, Kim CA. Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables. Genes. 2024; 15(5):595. https://doi.org/10.3390/genes15050595

Chicago/Turabian Style

Pimenta, Larissa Salustiano Evangelista, Claudia Berlim de Mello, Luciana Mello Di Benedetto, Diogo Cordeiro de Queiroz Soares, Leslie Domenici Kulikowski, Anelisa Gollo Dantas, Maria Isabel Melaragno, and Chong Ae Kim. 2024. "Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables" Genes 15, no. 5: 595. https://doi.org/10.3390/genes15050595

APA Style

Pimenta, L. S. E., Mello, C. B. d., Benedetto, L. M. D., Soares, D. C. d. Q., Kulikowski, L. D., Dantas, A. G., Melaragno, M. I., & Kim, C. A. (2024). Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables. Genes, 15(5), 595. https://doi.org/10.3390/genes15050595

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop