Down Syndrome and Electroconvulsive Therapy as an Approach to Treat Severe Depression

Severe, long term disabilities that affect cognitive functioning, physical functioning or both are called developmental disabilities (National Institute of Health [NIH], 2018). These disabilities are likely to be life-long and usually appear before the age of 22 (NIH, 2018). Down syndrome (DS) is an example of a developmental disability that affects both physical and intellectual functioning. Many people with DS also suffer from mental disorders such as severe depression. Understanding the epidemiology, clinical characteristics, and causes of this developmental disability is necessary to support the analysis on the effectiveness of electroconvulsive therapy (ECT) as an approach to treat severe depression among individuals with DS.

Epidemiology of Down syndrome

Epidemiology has a crucial role in identifying risk factors, describing health status, and analyzing the relationships between health and hazardous agents (Gulis & Fujino, 2015). In Canada, DS is the most commonly occurring chromosomal congenital anomaly (Government of Canada [GOC], 2017). According to Canadian statistics, the rate for DS among stillbirths was around 21.2 per 1,000 stillbirths, and the rate among live births were 13.5 per 10,000 live births (Public Health Agency of Canada [PHAC], 2017). To be more specific, for every live born baby in Canada, one in every 750 is diagnosed with DS (GOC, 2017). Moreover, women who are of the age of 35 and older are more at risk of having a baby born with DS but despite the increased risk, most babies born with DS belong to younger women (GOC, 2017; PHAC, 2017). This can be explained due to the higher fertility rates in younger women (GOC 2017).

Key Clinical Characteristics and Causes

Individuals with DS may act or look similar, however, each person is unique and has different abilities (Centers for Disease Control and Prevention [CDC], 2018). Key clinical characteristics or physical features for individuals with DS include a flattened face, a short neck, small ears, small hands and feet, almond-almond-shaped eyes that slant up, poor muscle tone or loose joints, the transverse palmar crease and more (CDC, 2018). Random errors in cell division that result in the presence of an extra copy of chromosome 21 are what causes DS to occur (National Institute of Health [NIH], 2017). Furthermore, the extra chromosome 21 causes the physical features and developmental challenges that are present among individuals with the developmental disability (CDC, 2018). With this developmental disability, there are three types of chromosomal changes that can occur.

Types of Chromosomal Changes Associated with Down syndrome

Complete trisomy 21. The first and most common type is complete trisomy 21, which occurs in about 95% of the individuals with DS and occurs due to nondisjunction (CDC, 2018; National Down Syndrome Society [NDSS], 2019). Due to this error, the embryo has three copies of chromosome 21 instead of having two like usual (NDSS, 2019). The pair of the 21st chromosome fails to separate in either the egg or the sperm and as the embryo develops, each cell in the body has an extra chromosome (NDSS, 2019).

Mosaic trisomy 21. The second type of chromosomal changes that can cause DS to occur is mosaic trisomy 21, which occurs in about 2% of cases (CDC, 2018; NIH, 2017). This error occurs early in development after a normal egg and sperm unite, and most cells have the extra chromosome, and some do not (NIH, 2017). At the time of development, some cells lose an extra chromosome 21 that was present at the time of conception that causes this chromosomal change to occur (NIH, 2017).

Translocation trisomy 21. Translocation Trisomy 21 is the final type of chromosomal changes that can cause DS and only occurs in about 3% of cases (CDC, 2018). In this type of chromosomal change, an extra chromosome 21 is present and is translocated or attached to a different chromosome instead of being a separate chromosome 21 (NIH, 2017). When comparing translocation trisomy 21 and complete trisomy 21, no distinctive cognitive or medical differences are present (NIH, 2017).

All individuals with DS have an extra chromosome 21 or part of it in some or all the cells (NDSS, 2019). Furthermore, the exact cause of the extra chromosome 21 is still unknown and the only thing linked to an increased risk of having a baby with DS is increased maternal age (NDSS, 2019). In fact, no scientific research proves that DS is caused by activities before or during pregnancy or caused by environmental factors (NDSS, 2019).

Down Syndrome and Mental Health

Of the children and adults with DS, 50% of them face a major mental health concern at some point in their lives (Munir, 2019). Some individuals may also have to deal with the heavy burden of multiple medical problems and these individuals are at a higher risk of experiencing mental health issues (Munir, 2019). Moreover, a common mental health concern among individuals with DS is severe depression. Depressive symptoms among children and adults include extreme social withdrawals, disrupted sleep, and the association with unpleasant environmental triggers such as a death or illness of a family member (Munir, 2019).

Addressing the Common Mental Health Issue

A non-medication approach that can be used to address severe depression among individuals with DS is electroconvulsive therapy (ECT). This approach allows an individual to feel relief of major depression by providing brief electrical stimulation while the patient is under anesthesia (McDonald, 2016). Although ECT is more commonly used in patients who have not responded to other treatments, ECT is known to be highly effective in relieving major depression (McDonald, 2016). With just one treatment, 60-80% of individuals with depression achieve remission (CAMH, 2019). Major depression in DS is most often presented as dementia which is why this behavioural regression is often misdiagnosed and individuals do not get diagnosed until later in their life (Byrne & Seyfort, n.d.; Warren, Holroyd & Folstein, 1989).

While individuals with DS are vulnerable to Alzheimer’s disease, the delay in the diagnosis of depression could be detrimental to individuals with DS and because of this, ECT would be an effective approach as it works quicker than antidepressants (CAMH, 2019; Warren et al., 1989).

Information from Research Publication One

In 2002, Gensheimer, Meighen and Mcdougle completed a case report on the effectiveness of ECT and involved the treatment for major depression for C who was a 15-year old white male with DS (Gensheimer, Meighen & Mcdougle, 2002). Moreover, C tried many medications and doses to relive depressive symptoms such as fluoxetine, sertraline, quetiapine, clonazepam, nefazodone, risperidone, venlafaxine, trazodone, and thioridazine (Gensheimer et al., 2002). Medications were not effective and due to the severity of C’s depression, ECT was considered. Furthermore, C approved for the treatment, and his parents gave written informed consent for ECT and over a period of eight days, he received four bilateral treatments (Gensheimer et al., 2002).

After beginning ECT, C continued taking thioridazine and venlafaxine and he appeared to be more interactive, more relaxed, paced much less, and smiled appropriately (Gensheimer et al., 2002). In fact, he demonstrated clinically signifiant improvements after the third treatment and throughout a 6-month follow-up period, his response to the ECT was maintained (Gensheimer et al., 2002). Furthermore, this case report supports that individuals with DS who are suffering from severe depression can benefit from ECT.

Critiques of Study One

Strengths. Even though case reports are the lowest in the hierarchy of evidence, the meta-analysis is at the highest level (Garg, Lakhan & Dhanasekaran, 2016). In addition, case reports present important information in regard to rare events such as a study being completed on how ECT can be used to treat severe depression for an individual with DS. Prior to the completion of this case report, only one report has been completed involving ECT to treat severe depression in a 17-year old female with DS (Gensheimer et al., 2002). Therefore, novelty is a strength of this case report. Moreover, it was stated in the report that written consent for ECT was given and confidentiality was in place as C was the name given to the patient and real names were not used. The title, case description, discussion, and conclusion were appropriate and emphasized why the case was important.

Weaknesses. Validity is an important aspect of research and generalization should not be placed on a single case report. Furthermore, since medications were not effective for C, it would still be ethical to take C off of thioridazine and venlafaxine and provide ECT since treatment is still being administered. Combining other non-medication approaches with ECT could prevent relapse in the future. Finally, case reports are subject to selection bias since randomization cannot be achieved and the researcher chose who was going to be studied.

Information from Research Publication Two

Another study by Kayser et al. (2001) compared ECT and magnetic seizure therapy (MST) where twenty patients with treatment-resistant depression were randomly assigned to receive a full course of ECT or MST (Kayser et al., 2011). Moreover, ten patients received ECT and the other ten received MST and although the hypothesis of this study was to determine if MST had antidepressant effects in treatment for depression, many positive results of ECT were found (Kayser et al., 2011). The Montgomery Asberg Depression Rating Scale (MADRS) was used to measure antidepressant response as a primary outcome measure (Kayser et al., 2011). Results of the study demonstrated that ECT was effective in having antidepressant effects and the clinical improvement was unrelated to the electrical dose (Kayser et al., 2011). Cognitive side effects in the ECT group were not found and for the MADRS ratings, there was a 50% improvement in antidepressant response (Kayser et al., 2011). Furthermore, findings from this study also support that ECT is highly effective in treating severe depression (Kayser et al., 2011).

Critiques of Study Two

Strengths. This randomized controlled trial has many strengths since allocation bias and selection bias were minimized due to randomization. Since the twenty participants were equally distributed, this minimizes any confounding factors and the statistical test was interpretable which increased the reliability of the results.

Weaknesses. A few weaknesses of this study was the small sample size of only twenty participants. During the study, a psychologist was present during the treatment which made the reorientation and recovery unblinded and the two treatments were easily distinguishable which could result in biases to occur (Kayser et al., 2011).

Finally, a superiority between ECT and MST was not established.

Conclusion

Since DS is the most prevalently occurring chromosomal congenital anomaly worldwide, at some point in life, one will come across an individual with an extra chromosome 21 or part of it in some or all of their cells. Although the direct cause of the chromosomal change is unknown, increased maternal age is a risk factor. Individuals with DS also suffer from mental disorders such as severe depression. To treat severe depression, ECT is an effective approach that could be used among individuals with DS. Furthermore, it is recommended that more research is conducted on the effects of treating severe depression using ECT among individuals with DS. Having interventions to early diagnose depression among individuals with DS are also needed to reduce the rates of misdiagnosis.