Autism & Developmental

Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome.

Artemios et al. (2019) · Journal of autism and developmental disorders 2019
★ The Verdict

Myhre syndrome can travel with high-functioning autism, so run ADOS and ADI-R even when a rare genetic label is already known.

✓ Read this if BCBAs who assess teens or adults with rare genetic syndromes and social challenges.
✗ Skip if Clinicians looking for intervention data—this paper offers none.

01Research in Context

01

What this study did

Doctors wrote up one young adult who has both Myhre syndrome and high-functioning autism.

They used ADOS-2 and ADI-R to check if the autism label fit.

No treatment was tested; the paper just shows how the two conditions can appear together.

02

What they found

The tests confirmed ASD in a person already known to have Myhre syndrome.

The authors warn that you can miss either diagnosis if you only look at the genetic label.

03

How this fits with other research

Moss et al. (2009) reviewed many genetic syndromes and found that ASD-like traits often look different from plain ASD. The new Myhre case adds one more rare syndrome to that list.

Mattila et al. (2010) counted that 74 % of youth with high-functioning ASD already carry extra psychiatric labels. The single Myhre case lines up with this pattern.

Mammarella et al. (2022) reported ASD in 48,XXYY syndrome using the same one-person method. Both papers show rare chromosomal disorders can hide beneath an ASD presentation.

04

Why it matters

When you see a client with a rare genetic diagnosis, do not assume all social quirks come from that syndrome. Run gold-standard autism tools if social-communication red flags appear. Catching both labels early guides better goals and saves re-assessment later.

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Pull ADOS-2 for any client with a known genetic syndrome and unclear social skills; do not let the medical label stop you.

02At a glance

Intervention
not applicable
Design
case study
Sample size
1
Population
autism spectrum disorder
Finding
not reported

03Original abstract

Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed. Autism has been proposed among associate clinical features of MS but no standardized diagnosis was available in previous cases. We report a case of a 25-year-old man with a pathogenic heterozygous SMAD4 missense mutation affecting residue Arg496 (SMAD4:p.Arg496Cys). Clinical findings are consistent with MS, commorbid with affective disorder and High Functioning Autism Spectrum Disorder confirmed by a standardized assessment procedure. The thorough clinical assessment of cases with syndromes such as MS can extend our knowledge on both the phenotypic characteristics of the syndrome and the genetic basis of autism.

Journal of autism and developmental disorders, 2019 · doi:10.1056/NEJM199504203321603