Down Syndrome Genetics and Behaviors

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Table of Contents

Abstract
Introduction
Down Syndrome and Its Behavioral Impacts
Down Syndrome as a Neurogenetic Disorder and Possible Implications for Therapy
Conclusion
References

Abstract

Using current research literature on behavioral issues and novel treatments for Down syndrome, this paper explores and discusses behavioral inflexibility, restrictive and repetitive behaviors, and Down syndrome’s neurogenetic nature. Behavioral flexibility or the ability to provide adaptive responses to spatially or temporally unstable and variable environmental conditions can be crucial to social success but is lacking in the discussed condition. Restrictive and repetitive behaviors or RRBs are a class of behavior-related issues manifested in Down syndrome and autism spectrum disorders. Possible genetic treatments, such as chromosome silencing techniques, could prevent these symptoms’ development but might be ethically imperfect by slightly increasing the risks of miscarriage and infection. Aside from treatment, the findings from Harrop et al. (2021) and Riggan et al. (2020) could improve counseling psychologists’ recognition of challenges affecting Down syndrome patients’ families.

Introduction

Down syndrome has pervasive influences on child development, behaviors, and a degree of independence. Extensive research has been conducted to develop and propose effective treatments for the condition. As a neurogenetic disorder causing intellectual disability, Down syndrome involves behavioral inflexibility and restrictive/repetitive behaviors, and the possibility of mitigating these and other symptoms through prenatal chromosome silencing techniques provides a promising yet ethically controversial avenue of research.

Down Syndrome and Its Behavioral Impacts

Insufficient Behavioral and Cognitive Flexibility

In Down syndrome, behavioral inflexibility is closely intertwined with cognitive inflexibility, or the cognitive system’s reduced ability to adapt to new events. This includes difficulty switching between tasks and maintaining several concepts simultaneously (Harrop et al., 2021). In trisomy 21 patients, both cognitive and behavioral flexibility is reduced, resulting in deficient adaptability. Regarding the cognitive component, deficits in executive functioning in pediatric patients with this diagnosis are well-established (Harrop et al., 2021). Harrop et al. (2021) effectively demonstrate high behavioral inflexibility scores in children with trisomy 21. It is, however, pointed out that their behaviors are still more flexible than those of their peers having fragile X syndrome and autistic spectrum disorder simultaneously.

Interestingly, as a feature of Down syndrome patients, behavioral inflexibility might not be exclusively negative for mental well-being. While also present in typically developing individuals, it could serve some protective purposes in both neurotypical children and their peers with Down syndrome. Specifically, inflexible behaviors in Down syndrome and typical development can instrumentalize predictability as an anxiety coping mechanism (Harrop et al., 2021). This, however, does not deny the issue’s detrimental impacts on socialization and communication.

Restrictive and Repetitive Behaviors (RRBs): Manifestations and Influences

RRBs can permeate multiple areas of activity and everyday tasks, resulting in repetitive purposeless movements, echolalia or meaningless repetition of phrases heard from other people, rituals, the unwillingness to alter any routines, and similar issues. In children with Down syndrome, lower-order behaviors, such as primary motor stereotypies, are more widespread compared to higher-order ones, such as a preference for rituals and the presence of circumscribed interests (Harrop et al., 2021). Notably, individuals with other neurodevelopmental conditions aside from trisomy 21 or typically developing children can also exhibit RRBs (Harrop et al., 2021). Due to this, establishing the underlying causes of RRBs in Down syndrome could be challenging.

RRBs’ influences on the developing individual’s social and academic life are enormous. The early manifestations of RRBs, in the form of behaviors of the higher- and lower-order classes, are predictive of maladaptive and problematic behaviors later in life (Harrop et al., 2021). In Down syndrome patients, the signs of insufficient adaptation can be vastly diverse, including externalizing and internalizing symptoms, aggression, oppositional behaviors, inattention, and so on.

Even in school-aged children with high-functioning trisomy 21, as their parents report, such problematic behaviors create substantial barriers to social integration, learning, and interpersonal communication (Riggan et al., 2020). Regarding learning, in their study that compares inflexibility scores for trisomy 21 and fragile X syndrome children, Harrop et al. (2021) demonstrate that redirection can be the most challenging in the first group. Although studied in the context of parent-child interaction, this fact could have implications for academic progress, including difficulties in activities requiring multitasking.

Down Syndrome as a Neurogenetic Disorder and Possible Implications for Therapy

Chromosomal Silencing: Benefits and Ethical Challenges

Down syndrome’s nature involves some opportunities for prenatal genetic interventions that could reduce behavioral and other symptoms’ manifestations. Being among the most common neurogenetic disorders, Down syndrome affects 1 in more than 800 children and is caused by one extra copy of human chromosome 21 (Riggan et al., 2020). Trisomy silencing and its effectiveness have become prominent avenues of research relatively recently.

In a range of preliminary studies published between 2012 and 2015, it has been shown that prenatal interventions involving silencing the extra chromosome or gene targeting could alter gene expression to promote more typical cognitive and socio-emotional development (Riggan et al., 2020). Therefore, in-utero chromosomal silencing could potentially erase behavioral and cognitive differences between typically developing children and those with Down syndrome.

Despite not being actually used in Down syndrome treatment, prenatal genetic interventions introduce various ethical concerns. Firstly, although expected to promote better adaptability, prenatal genetic therapy could have poorly explored long-term effects, thus creating a sense of uncertainty and moral suffering for parents (Riggan et al., 2020). Secondly, in-utero treatment might slightly increase the risks of miscarriage and maternal and fetal infections, making many parents reject this hypothetical scenario (Riggan et al., 2020).

Finally, in spite of these risks, genetic therapies do not guarantee sensible results in developmental symptom prevention. Considering Down syndrome’s severe differences from life-threatening and terminal illnesses affecting children, the risks above might be considered elevated, so future research should focus on hypothesizing such interventions’ developmental side effects and clarifying risk-benefit ratios.

Counseling for Down Syndrome and Special Needs Patients

Regarding practical implications, the information above and knowledge of developmental disorders will support me in counseling Down syndrome and special needs patients in my future career as a psychology major. To start with, an understanding of Down syndrome’s effects on behavioral flexibility and adaptability will promote the recognition of functional and psychological deterioration in special needs populations, resulting in timely referrals to other services. At the same time, these findings strengthen the knowledge of behavioral inflexibility as a concern requiring accommodations and strategies to create less unpredictable environments for special needs children. This will enhance therapeutic communication at the family level by improving the recognition of such families’ struggles.

Conclusion

In summary, Down syndrome’s behavioral symptoms are not conducive to successful learning and communication, thus causing the need for new treatments, including prenatal chromosomal silencing. This intervention type is, however, fraught with diverse ethical concerns, ranging from miscarriage risks to limited effectiveness. By explaining psychological challenges associated with the diagnosis, these findings are of practical value to counseling psychologists providing services to special needs populations.

References

Harrop, C., Dallman, A. R., Lecavalier, L., Bodfish, J. W., & Boyd, B. A. (2021). Behavioral inflexibility across two neurogenetic conditions: Down syndrome and fragile X syndrome. American Journal on Intellectual and Developmental Disabilities, 126(5), 409-420. Web.

Riggan, K. A., Nyquist, C., Michie, M., & Allyse, M. A. (2020). Evaluating the risks and benefits of genetic and pharmacologic interventions for Down syndrome: Views of parents. American Journal on Intellectual and Developmental Disabilities, 125(1), 1-13. Web.

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