Robert is a 5-year-old boy who presents for an autism diagnostic evaluation accompanied by his parents, who report longstanding concerns about their son’s communication difficulties. Robert has an older brother who has been diagnosed with an autism spectrum disorder (ASD). Robert’s caregivers have noticed his tendency to “copy cat” others and often repeat phrases from television or movies. Robert and his family provided additional history and, after a multidisciplinary evaluation, he was diagnosed as fitting the criteria for ASD. Our team spoke with Robert’s parents about their impressions and recommendations and further explored the family history and ways in which the family functions. Robert lives with his parents and four siblings (one older and three younger, including a set of fraternal twins), most of whom display language impairments and difficulties with emotional regulation, as well. Robert’s mother also discloses that she is pregnant again. “Where do we go from here?” Robert’s mother wonders. “Our family is already so affected by autism, should I be worried about the other children?”
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Discussion
It’s well established that genetic factors play a significant role in the etiology of autism spectrum disorders, other neurodevelopmental disorders, and a vast array of mental health problems. Although quite complicated and multifactorial, heritability estimates garnered from twin studies for autism range up to well above 50%1, and although finding specific genetic causes of nonsyndromic autism is the exception to the rule, chromosomal microarray analysis (CMA) is recommended as a first-line genetic test for those with autism. Recent literature has shown that molecular diagnoses of ASD are found in about 9% of the population studied2, and families should be aware that genetic testing can potentially help make decisions about clinical management and can inform discussions about recurrence risk.
Families should be made aware that sibling recurrence rates of autism have been found to be around 20 times higher than the prevalence within the general population3. Certainly having one child with autism can afford a significant risk for parents having another child with the same disorder, and researchers are learning more about the influence of gender on such risk4. Curiously, siblings born after an older sister with autism seem to have a higher risk of ASD than if they were born after an older brother with autism. The authors of this study note, however, that even for those with the highest risk (younger brothers with an older sister with autism had about a 17% probability of recurrence), odds are they will be unaffected by autism. Complicating matters is the notion of the broad autism phenotype (BAP – denoting those who may have features of autism but do not reach diagnostic threshold) with literature indicating at least one BAP trait was found in about 50% of family members of those with ASD5.
In addition, autism also may share genetic vulnerabilities with other conditions – parental psychiatric diagnoses have been found to increase the risk for ASD in their children, and ASD frequently co-occurs with a constellation of other disorders – including anxiety disorders, intellectual disabilities, ADHD, and learning problems. This information can be helpful to clinicians when they speak with parents about the complicated nature of psychiatric and developmental disorders, and how such disorders can affect the family not only biologically, but through dynamic environmental means, as well. , including parents and siblings6. Data clearly indicate that, if a child carries an autism diagnosis, engaging family in family-based treatment, prevention, surveillance/screening, and general supportive interventions are critical in promoting positive outcomes.
Children and adolescents with ASD are a remarkably heterogeneous group with variable family dynamics; clinically, it’s not uncommon to meet parents from all backgrounds who speak eloquently about the stress they face raising a child with any neurodevelopmental disorder. This stress has been well documented in several scientific articles over the past decade (for mothers more so than fathers) but other family members (for example, typically developing siblings) undoubtedly experience similar stress, but this has been less robustly researched. Literature has, in fact, revealed that children who develop typically and who reside with a sibling who has a disability are more likely (compared with siblings living with other typically developing siblings) to have problems related to interpersonal relationships, school functioning, and use of leisure time7. Undeniably, complicated interactions with one’s functional profile, the quality of a sibling’s symptoms, parental stress, and other variables (parental marital status, birth order, presence of parental depression, available sources of support, etc.) are noted, and clearly, autism’s effects can extend far beyond the “identified patient.”
It’s important to note, however, that not all effects are negative. Siblings can demonstrate positive adjustments when growing up with a brother or sister who has autism. While siblings encounter unique demands (missing out on certain outings, feeling embarrassed by a brother’s social behaviors, having to “take care” of their brother, “why can’t we be a normal family?”), these demands can produce benefits, and parents should be aware that negative effects on siblings are far from inevitable. Siblings actually may show increased empathy, more sophisticated coping skills, and an advanced appreciation for those with developmental challenges, compared with most of their peers. Typically developing siblings can serve not only as a social and play partner for their family member with ASD (fostering social competencies), but also the individual with ASD can serve a positive role in influencing the development of those without ASD8.
All things considered, talking with families about the impact of autism on parents and siblings can be complicated but should focus on the positives while being realistic about potential challenges. It is important to inform families about the risk of recurrence and about the stress that autism can create on siblings while you are assessing a family’s functioning and care-giving burdens. Ultimately, this can help you determine how to offer them the most appropriate, evidence-based, and family-focused care.
Dr. Jeremiah Dickerson