Although there is a reasonable body of literature describing the IQ, achievement, neurocognitive and behavior abnormalities in children with 22q11DS, there is a lack of published studies that have assessed the role of the environment in functioning in these domains. We are the first to examine the association of parental SES with cognition and behavior in children with 22q11DS. Our results indicate that in the 22q11DS group, parental SES is mainly associated with variance in behavior problems and less so with cognition. In contrast, control subjects’ parental SES was associated with IQ and achievement, but not with behavior problems. We discuss below the possible reasons for these results and the potential utilization of this information.
Oppositional defiant disorder (ODD) and lower parental SES were correlated in the 22q11DS group and not the controls, indicative of the differential relationship between SES and behavior in the two groups. Paralleling this finding, children with 22q11DS from lower SES families had higher rates of behavior problems on the CBCL scales as evidenced by more problems with overall competency as wells as poor social skills on the SSRS, compared to those from higher SES families. These findings were consistent with our hypothesis that SES impacts upon behavior in children with 22q11DS, but contrary to our postulation it did not correlate as much with cognition. Although we found correlations between working memory and broad mathematics skills and SES in children with 22q11DS, they were not as pronounced as they were in the control group. Higher neurocognitive skills such as sustained attention, executive function and verbal learning and memory also did not correlate with parental SES in the 22q11DS group. Although we and others have found a high incidence of anxiety disorders (~50%) in children with 22q11DS (Arnold et al. 2001
; Swillen et al. 1999
), we found no correlation between those and SES in this study. We infer that neurocognitive functions and anxiety disorders are mainly affected by the hemizygous deletion of the 22q11.2 region and that SES may not influence these domains above and beyond the deletion.
The behavioral problems in children with 22q11DS are numerous and include poor social skills, higher rates of internalizing symptoms, anxiety, ODD and inattention (Swillen et al. 1999
; Swillen et al. 2000
). Their temperament has been described to be moderately difficult (Antshel et al. 2007
). All of these would be expected to interfere with the overall functioning of these children and indeed we have reported poor global function in children with 22q11DS (Lewandowski et al. 2007
). In this study we found a relationship between overall function (GAF) and SES, in the same direction as the measures of behavior, a likely reflection of the impact of the behavior problems upon their overall functioning. This leads to the logical question as to whether this information could be used in implementing effective interventions in these children taking into account their SES, to improve functionality. Although this question is not as of yet answered, by studying SES within the framework of 22q11DS we have the potential to examine environmental factors that contribute to the neurobehavioral phenotype of these children. Assuming that all of the cognitive and behavior problems are causally related to the deletion deprives us of the opportunity to develop interventions that may be beneficial in improving functionality.
In the typically developing control group, full-scale IQ as well as many of the IQ sub-indices were associated with parental SES, similar to the reports in the literature (Hackman and Farah 2009
) and our hypothesis that parental SES is associated with variance in childhood cognition in the general population. However, we did not see significant associations between behavior and parental SES in this group, contrary to reports in the literature. The reasons for this may be our small sample size of control subjects. Since the focus of this article is to examine the relationship between children with 22q11DS and their parental SES, the sample size of the controls is not a detractor. Moreover, the several published studies on SES and cognition/behavior in typically developing children serve as a comparison for children with 22q11DS in our report. However, it is to be noted that in our study, the incidence of some behavioral problems such as ODD was similar in the control population as in the 22q11DS group () and thus the lack of correlation between SES and behavior in the control group indicates that behavior is not as associated with SES in the typically developing control children, as it is in the 22q11DS group.
The limitation of our study is that we did not examine other psychosocial factors, such as parenting style and schooling as variables in the environment of children with 22q11DS; however, as stated above our study represents an important first step in this direction. One or more of these factors as well as phenomena such as epigenetic regulation of gene expression could be underlying the association between SES and behavior in our cohort of children with 22q11DS. Thus, our study does not establish a causal relationship between parental SES and behavior problems in children with 22q11DS, but highlights the need to further examine the contribution of environmental factors to the psychological phenotype in these children.
What utility would this information provide for children with 22q11DS? We are not aware of any study that would answer this question, but there are important parallels to be drawn from studies involving typically developing children. With parental warmth and SES accounting for a significant proportion (2/3) of the shared variance in general cognitive ability in early childhood in typical children (Petrill and Deater-Deckard 2004
), interventions aimed at overcoming the disadvantages of lower SES, have reported encouraging outcomes with gains in language (Fernald et al. 2008
) short-term gains in IQ, but more importantly long-term effects upon high-school graduation rate, home ownership and functionality in society (Muennig et al. 2009
; Ramey and Ramey 1998
; Weikart 1998
). These programs focused on improving academic performance by intensive remediation of executive skills, reasoning skills and direct academic content instruction, as well as increasing parental involvement in their children’s education. The children in these longitudinal studies showed more self-regulation, discipline and perseverance; it is thought that these behaviors can be taught from a young age and are more predictive of academic performance than IQ alone (Duckworth et al. 2007
; Duckworth and Seligman 2005
). Implementation of similar interventions for children with 22q11DS may help alleviate the behavior and cognitive problems and thus increase functionality. The high risk of psychosis in these children mandates attention to the behavior and emotional functioning in childhood and raises the question as to whether childhood interventions would have an impact upon the neurocognitive and behavioral abnormalities seen with the onset of psychosis.
Although the current study was not directly designed to test this, SES may an important variable which influences the home and school environment. Families of lower SES may not have the resources required to strongly advocate for accommodations in the school setting; they may have time limitations due to work schedules that affect their availability to tackle academic and behavioral concerns and lower SES may increase stress levels in the family which in turn may influence the child’s behavior. These have implications for the genetic counseling setting, as this study has demonstrated a clear correlation between SES and behavior in children with 22q11DS. Our finding of a significantly lower parental SES in children with 22q11DS who had an affected parent (n=5) compared to those that did not have an affected parent could be indicative that having an affected parent can result in socioeconomic difficulties, not surprisingly, since the deletion would be expected to impact upon the level of education of the affected parent and possibly the occupation of that individual. However, since two of the five children were being raised by relatives, the SES of the guardian was used, not that of the affected parent. Due to this and due to the small number of children with 22q11DS who had an affected parent in this study, further research is needed to make inferences about the relationship between SES and having an affected parent.
The traditional model of genetic counseling has been to alleviate the stress of a family with a genetic disorder by providing them information to increase their knowledge of the condition and their perceptions of it and less so on identifying environmental factors that may be improved to enhance functionality of the child. Contextual models of family stress have identified the availability/lack of resources to be an important factor in mediating stress a family goes through when multiple demands/stressors leads to “pile-up” resulting in maladaptation or a crisis (Boss 1988
; McCubbin et al. 1996
). Pile-up is defined as the long-term effect of both normative and non-normative stressors on the family and results from demands made on the family that is inclusive of the effects of the family finances, health, and ability to work (McCubbin et al. 1996
). Families with a child with 22q11DS who face multiple challenges, not the least of which are behavioral problems which cause parental stress(Briegel et al. 2008
), would certainly fit into this model, with families with lower SES likely to have less access to resources. We suggest that genetic counseling for families with a child with 22q11DS include inquiries about access to resources that may mitigate the behavior problems, such as social skills training and referral to appropriate services, especially since behavior problems are well known to be associated with poor functionality (Kushnir and Sadeh 2010
; Pitzer et al. 2009
Genetic counselors are in a unique position to assist families that have limited resources to obtain access to support, by teaching parents how to advocate for additional school services, providing written information specific to school challenges in children with 22q11DS, or writing letters advocating for additional accommodations on the child’s behalf, such as social skills training. Genetic counselors in a pediatric setting often have the opportunity to follow families long-term. Long-term follow up allows genetic counselors to partner with the parents to not only provide information, but to also help identify the child and families’ needs, provide anticipatory guidance, and to facilitate referrals to appropriate developmental and educational professionals (McConkie-Rosel A 2007
). Additionally, these interventions can be tailored according to the age of the child with 22q11DS. They also can involve a social worker to help the parents to navigate federal or state assistance programs, thereby potentially reducing financial stress caused by medical bills. They can emphasize the importance of support groups in providing encouragement and collaboration in facing challenges specific to raising a child with 22q11DS and parental training in learning to manage behavioral problems in the children. It is our duty to consider these and other opportunities to assist our patients and their families, especially in families of lower SES as demonstrated by the results of this study. We wish to emphasize that lower SES alone should not be an indication for recommending specific intervention programs, but that lower SES should prompt the genetic counselor to ask the family about the access to resources and if needed, further referrals as listed above.
Research on SES and cognition is viewed by many as being undesirable, with the suspicion that inferences will be made to indicate that individuals of lower socioeconomic status are inferior or undeserving (Raizada and Kishiyama 2010
). On the contrary, we hope that studies that examine environment and psychological functioning in children with 22q11DS will highlight the need for educational and social intervention programs for these children. We are cognizant of the fact that characterizing the complex environment of children, whether they have 22q11DS or are typically developing, involves much more than examining parental SES; other variables that need to be examined include parenting style, schooling, neighborhoods and levels of stress in the child and family members-all of which are potentially modifiable from a treatment perspective. Although genetic counselors and physicians are not in a position to change the SES status of a family, working within the framework of modifying factors that can be changed, such as maximizing the availability of resources, increasing parental awareness and involvement are means that have the potential to yield positive results. Our study of the relation of parental SES with neurocognition and behavior in children with 22q11DS is an important first step to highlight awareness of the importance of the environment in the neurodevelopmental outcomes for these children. Interventions that could improve these environmental factors would need to be systematically examined; examples of some of these would be to optimize schooling, parenting, social skills training and on a larger scale assess the impact of improving the SES of these families as part of society. Further research in these areas is needed to answer these critically important questions and we are hopeful that our article will stimulate this field, particularly with respect to the role of the genetic counselor working with this population and their families.