Cracking the Code: Understanding and Diagnosing Delayed Gross Motor Development

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Delayed gross motor development is a condition that affects the progress of a child’s physical abilities, such as crawling, walking, and maintaining balance. It can be caused by various factors, including genetic mutations, hearing loss, and infections. This article dives into the details of understanding, diagnosing, and utilizing genetic testing for delayed gross motor development, with a focus on the specific cases mentioned in the provided references.

Causes of Delayed Gross Motor Development

Vestibular Hypofunction and Sensorineural Hearing Loss

Infants with severe sensorineural hearing loss may experience delayed motor development due to vestibular hypofunction, which affects their balance and spatial orientation. A study conducted by Audiology highlights the correlation between hearing loss and delayed motor development in infants.

Cutaneous Larva Migrans Infection

Infections can also contribute to delayed gross motor development. A case reported in the Journal of Medical Microbiology discusses a child with delayed motor development who presented with cutaneous larva migrans infection on her abdomen. The child responded well to a seven-day course of Albendazole.

Spinocerebellar Ataxia-21 and SCYL1 Gene Mutation

Genetic mutations can lead to various health conditions, including delayed gross motor development. A Bahraini child with a novel SCYL1 gene mutation experienced recurrent acute liver failure and delayed motor development, leading to a diagnosis of spinocerebellar ataxia-21, as reported in Cureus.

Interventions for Delayed Gross Motor Development

Perceptual Motor Exercise and Down Syndrome

Children with Down syndrome often experience delayed gross motor development. A single-subject study published in the Journal of Rehabilitation Research and Strategy suggests that perceptual motor exercise may improve dexterity in children with Down syndrome, with varying degrees of effectiveness.

Genetic Testing: A Key Tool for Diagnosis and Management

Identifying Genetic Mutations

Genetic testing can be a valuable tool in diagnosing and managing delayed gross motor development, especially when a genetic mutation is suspected. In the case of the Bahraini child with spinocerebellar ataxia-21, genetic testing helped identify the novel SCYL1 gene mutation, which was crucial for the diagnosis and treatment plan.

Early Detection and Intervention

Early detection of genetic mutations through genetic testing can enable prompt intervention and potentially prevent or reduce the severity of delayed gross motor development. By identifying the underlying cause of the condition, healthcare providers can customize treatment plans and provide appropriate support for the child and their family.

Guiding Treatment Decisions

Genetic testing can also help guide treatment decisions by identifying potential risks and benefits associated with specific interventions. For example, if a child has a genetic mutation that increases their risk of developing a particular health condition, healthcare providers can take this into account when determining the most appropriate treatment plan.

Family Planning and Genetic Counseling

Genetic testing can provide valuable information for family planning and genetic counseling. If a child has a genetic mutation that causes delayed gross motor development, their parents may choose to undergo genetic testing to assess their risk of passing the mutation on to future children. Genetic counseling can help families understand their risks and make informed decisions about family planning.

In conclusion, delayed gross motor development is a complex condition with various causes, including genetic mutations, hearing loss, and infections. Genetic testing plays a crucial role in diagnosing and managing this condition, providing valuable information for treatment decisions, early intervention, and family planning. By understanding the underlying causes of delayed gross motor development and utilizing genetic testing, healthcare providers can better support affected children and their families.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)