Mothers of Children with Rare Genetic Syndromes Experience Stress Similar to Moms of Autistic Kids, Study Finds

A significant proportion of mothers of children with rare genetic syndromes, such as Angelman syndrome, experience levels of stress similar to those reported by mothers of children with autism — a group that has been previously identified as at high risk for mental health difficulties, a study shows.

The study, “Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism,” was published in the Orphanet Journal of Rare Diseases.

It is known that mothers of children with intellectual disabilities or autism experience high levels of stress and compromised mental health status. But very little is known about the mental health and ensuing levels of stress or depression in mothers of children with rare genetic syndromes.

This is particularly important as identifying high-risk groups of mothers allows for early intervention and the implementation of support structures.

Researchers conducted a study to assess the mental health and well-being of mothers of children with 13 rare genetic syndromes. They also compared levels of depression and stress in this caregiver population to those observed in mothers of children with autism.

A total of 646 mothers of children with 13 different genetic diseases, including Angelman Syndrome, and 66 mothers of children with autism completed different tests that measured mental health status, stress, and depression.

Using Bayesian methodology — a statistical method that reveals the probability for a hypothesis as more evidence or information becomes available — researchers examined the influence of each disease, the child’s abilities, and maternal and child age in relation to each outcome. Specifically, researchers looked at maternal depression and stress.

Different maternal and child factors affected different aspects of mental health status. The significance of these factors differed among diseases.

Depression in mothers was influenced by the child’s ability in only some of the diseases, including Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, tuberous sclerosis complex and Phelan McDermid syndrome. Other diseases were characterized by either elevated or lowered levels of maternal depression regardless of child factors.

Maternal stress had a more complex relationship with a child’s ability, and for some groups, a child’s age. Maternal stress tended to increase with a child’s age, with the exception of Sotos, Angelman and Smith-Magenis syndrome, where it decreased with a child’s age.

Researchers also found that some diseases (Smith-Magenis syndrome, 1p36 deletion syndrome, Cornelia de Lange syndrome) had a significant proportion of mothers who experienced comparable levels of depression to mothers of children with autism. Similarly, a significant portion of mothers of children with Smith-Magenis syndrome and Angelman syndrome experienced stress levels similar to mothers of children with autism.

“[T]he similarities in mental health difficulties between these syndromes and ASD [autism spectrum disorder] cannot be explained simply by the presence of “autism-symptoms” within these syndromes. This may suggest that different “direct effects” of a syndrome may have differing “indirect effects” in the context of the broader physical and cognitive phenotype,” researchers stated.

“Parents, syndrome support groups and professionals encourage the use of knowledge relating to genetic syndromes to tailor services and provide proactive services within syndrome-specific at-risk areas. The results of this study highlight potential factors in being able to begin to identify mothers of children with specific syndromes who may be particularly vulnerable to mental health problems, and raise the possibility of targeted and early support for families,” they concluded.