Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study
RY Eberhardt et al, Genetics in Medicine, October 12, 2023
From the abstract: "We aim to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders.
We identified MCAs in SNP array data from 12,530 probands in the Deciphering Developmental Disorders (DDD) study. We found 61 MCAs in 57 probands, many of these were tissue specific. In 23/26 (88.5%) cases for which the MCA was detected in saliva where blood was also available for analysis, the MCA could not be detected in blood. The MCAs included 20 polysomies. "
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
YN Francis et al, Genetics in Medicine Open, August 4, 2023
The introduction of a national program in Israel for exome sequencing for global developmental delay has transformed patient care, leading to a significant effect on medical management and treatment. The high rate of an unexpected inheritance mode and variable phenotypes emphasizes the diagnostic complexity of neurodevelopmental disorders and the strength of a non-targeted approach.
Evaluation of Birth Weight and Neurodevelopmental Conditions Among Monozygotic and Dizygotic Twins.
Johan Isaksson et al. JAMA Netw Open 2023 6 (6) e2321165
After adjustment for genetic factors, is birth weight associated with neurodevelopmental conditions? In this case-control study of 393 twins in Sweden, the twin with a lower birth weight in monozygotic twin pairs, but not dizygotic pairs, had more autism and attention-deficit/hyperactivity disorder (ADHD) symptoms, lower IQ ratings, and higher odds of having a diagnosis of autism and ADHD compared with their co-twin. These findings suggest that birth weight contributes to neurodevelopmental conditions when adjusting for genetic factors.
"I am not a number!" Opinions and preferences of people with intellectual disability about genetic healthcare.
Strnadová Iva et al. European journal of human genetics : EJHG 2023 1
Five main themes emerged: (i) access to genetic healthcare services is inequitable, with several barriers to the informed consent process; (ii) the experiences and opinions of people with intellectual disability are variable, including frustration, exclusion and fear; (iii) genetic counselling and diagnoses can be profoundly impactful, but translating a genetic diagnosis into tailored healthcare, appropriate support, peer connections and reproductive planning faces barriers; (iv) people with intellectual disability have a high incidence of exposure to trauma and some reported that their genetic healthcare experiences were associated with further trauma; (v) recommendations for a more respectful and inclusive model of genetic healthcare.