Summary: A recent study has revealed that motor delays and a child with developmental disorders are strong indications of an actual genetic diagnosis. Researchers examined patient records to recognize early warning signs, discovering that 75 % of children with machine delays had genetic diagnoses. Early recognition may lead to families seeking genetic testing, which could lead to the development of intended treatments or the monitoring of related health issues.
This study highlights key scientific features like engine delay, small muscle tone, and delayed walking, which was guide future screening guidelines. Knowing these symptoms can help families and doctors decide to pursue genetic testing more quickly, reducing the amount of time needed to identify and customize care. The research’s findings aim to improve patient care by providing personal biological evaluation insights.
Important Information:
- 75 % of children with engine delays in the study had a genomic analysis.
- Higher rates of genetic analysis were also observed in children with delayed running and poor muscle tone.
- First genetic testing can help with managing existing medical conditions like heart problems or seizure risks.
Origin: UCLA
In a recent study, UCLA Health researchers discovered that machine delay and a lack of muscle tone were typical symptoms of a genetic disorder in children with neurodevelopmental disorders.  ,  ,
The study writers wanted to find out what factors in this set of children indicated the need for a genetic test given the limited available data on the first developmental symptoms that predict a good genetic analysis.
A diagnostic result can have advantages on medical care, according to Dr. Julian Martinez, senior co-author and medical geneticist at UCLA Health, but we do n’t have established clinical guidelines on the early neurodevelopmental signs that determine whether someone should receive genetic testing.  ,  ,
Knowing the first neurodevelopment symptoms that indicate a genetic diagnosis can benefit both a patient’s family and the doctor: a geneticist may recommend a geneticist for testing that might lead to a good biological diagnosis, which can aid in monitoring the development of various medical conditions or give the opportunity to begin a treatment for the particular hereditary condition, if one is available, can help a patient’s family advocate for seeing a geneticist.  ,  ,  ,
The study, published in Genetics in Medicine, reviewed medical charts from 316 patients seen at the UCLA Care And Research In NeuroGenetics ( CARING ) Clinic from 2014-2019. The CARING clinic is a multidisciplinary hub where a psychiatrist, geneticist, neurologist, and psychologist collaborate to treat patients with neurodevelopmental disorders.
The researchers then documented clinical characteristics that helped the patients with and without a genetic diagnosis after determining their genetic testing results.  ,  ,  ,
Overall, the researchers discovered that women who had a genetic diagnosis were more likely to be female and to receive early treatment for motor-delay, muscle fatigue, and/or congenital heart disease.
Of the study group, 75 % of patients with motor delay had a genetic diagnosis, and in patients without motor delay, low muscle tone and age of walking were other indicators for a genetic diagnosis.  ,  ,  ,
The field of genetics has worked diligently for many years to identify the patients who would gain the most from genetic testing, Martinez said.
” So, it’s helpful to know that a delay in motor skills yields a very high likelihood of a genetic diagnosis” . ,  ,  ,
Dr. Aaron Besterman, study senior author and former UCLA Health Postdoctoral Researcher who is now a UCSD Department of Psychiatry, said,” This study brings us one step closer to developing evidence-based guidelines for genetic testing in neurodevelopmental disorders.”
” By identifying key clinical features, we can help ensure that the children most likely to benefit from genetic testing receive it promptly” . ,  ,
According to Dr. Martinez, a early genetic diagnosis can help with managing or anticipating a medical co-occurrence like congenital heart disease, a psychiatric illness, or information on a higher likelihood of having seizures.
He also said while controversial, some families prefer to be informed about their genes for family planning.  ,  ,  ,
The goal is to shorten the diagnostic odyssey, which is the time it takes for a patient to receive a diagnosis, so that we can nurture the patient and provide the personalized care that is best for the patient with a unique diagnosis without having to treat them like anyone else.
About this news from research in neurodevelopment and genetics
Author: Kelsie Sandoval
Source: UCLA
Contact: Kelsie Sandoval – UCLA
Image: The image is credited to Neuroscience News
Original Research: Open access.
By Julian Martinez and colleagues,” In a tertiary care facility, genetic factors are associated with the diagnosis of suspected neurogenetic disorders..” Genetics in Medicine
Abstract
In a tertiary care facility, genetic factors are associated with the diagnosis of suspected neurogenetic disorders.
Purpose
This study sought to identify phenotypic factors that are linked to genetic disorders in patients with neurodevelopmental disorders and create a decision tree to aid clinicians in identifying the patients who are most likely to receive a positive result from genetic testing.
Methods
We retrospectively reviewed the charts of 316 patients who had been enrolled in a neurodevelopmental clinic between 2014 and 2019. Patients were classified based on the results of genetic tests. To distinguish between patients who had and did not have a genetic diagnosis, analyses were carried out.
Results
Patients with a genetic diagnosis were more likely to be female and have a history of motor delay, hypotonia, congenital heart disease, and early intervention. According to classification and regression analysis, 75 % of motor-delay patients were genetically diagnosed. In patients without motor delay, hypotonia, age of walking, and age at initial evaluation were important indicators of a genetic diagnosis.
Conclusion
Our research suggests that genetic diagnoses of children with neurodevelopmental disorders are related to motor delay and hypotonia. The decision tree suggests potential phenotypic screenings and highlights patient subsets who are more vulnerable. Future studies may lead to the creation of validated decision trees based on phenotypic data to aid clinicians in preparing patients for genetic testing.
