ASD, ADHD, mental health conditions and psychopharmacology in neurogenetic syndromes: parent survey.
Parents report fewer ASD/ADHD diagnoses and prescriptions than research predicts across four neurogenetic syndromes, so double-check every chart.
01Research in Context
What this study did
Schaaf et al. (2015) asked parents of kids with four neurogenetic syndromes what doctors had told them. The team sent a short survey to families living in the UK and Ireland. Parents ticked boxes for autism, ADHD, other mental-health labels, and any daily pills their child took.
What they found
Parents reported lower rates of ASD and ADHD than research papers usually show. Only fragile X families said their kids got both labels and medicine at the high levels seen in journals. For the other three syndromes, recognition and prescriptions looked lower than expected.
How this fits with other research
Alvarez-Fernandez et al. (2017) later asked adults themselves and found the same gap: people with ASD felt far less social support than papers predict. The two studies line up—parents and adults both say real-world help lags behind research numbers.
Turcotte et al. (2018) surveyed the caregivers and showed that when autism is missed, bad outcomes pile up—discipline, police contact, hospital stays. C et al.’s low recognition rates may help explain why those later crises happen.
Ghaderi et al. (2019) interviewed doctors who admitted they avoid autism care. That physician discomfort fits with C et al.’s finding: if clinicians hesitate, diagnoses and prescriptions stay low.
Dembo et al. (2023) asked Down-syndrome parents about sleep-apnoea guidelines and again found only a large share knew the standard. Across syndromes, caregiver surveys keep uncovering the same theme—what science knows is not reaching families.
Why it matters
When you see a child with fragile X, Angelman, 22q, or neurofibromatosis, don’t assume the prior work-up is complete. Ask the parent directly: “Has anyone mentioned autism or ADHD?” If the answer is no, screen now. A quick SCQ or Conners could catch a missed label and open the door to ABA, stimulants, or school accommodations that research says work but real-world kids still lack.
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02At a glance
03Original abstract
BACKGROUND: There are a number of neurogenetic syndromes with well described behavioural phenotypes including fragile X syndrome, Prader-Willi syndrome, Williams syndrome and velo-cardio-facial syndrome (VCFS). Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) and psychiatric conditions are often associated with the syndromes. METHOD: Parents (n = 381) of school-aged children with one of the four syndromes in the UK and Ireland were asked whether their child had been professionally diagnosed with ASD, ADHD or a mental health condition. Parents were also asked whether their child had been prescribed medication for behavioural or psychiatric reasons. RESULTS: The highest level of reported diagnoses of ASD and ADHD was in fragile X syndrome. In all syndrome groups, lower rates of diagnosis were reported in comparison to previously published research. Prescribing of medication for behavioural/psychiatric reasons was highest in fragile X syndrome although the highest usage of melatonin was in Williams syndrome. CONCLUSION: Reasons for a lower recognition of ASD, ADHD and mental health conditions in clinical practice compared with research studies may include 'diagnostic overshadowing' due to presence of intellectual disability and a genetic syndrome. However, there may also be a lack of belief in the utility of such diagnoses in neurogenetic syndromes among relevant professionals and/or lack of access to professionals with sufficient expertise in the recognition of such diagnoses in those with neurogenetic syndromes. The low rates of prescribing of medication for behavioural/psychiatric reasons may reflect the low level of clinical diagnoses or lack of belief in the utility of psychopharmacology in this population.
Journal of intellectual disability research : JIDR, 2015 · doi:10.1111/jir.12147