CHAMP1-Related Syndrome

CHAMP1-related syndrome happens when there are changes in the CHAMP1 gene. These changes can keep the gene from working as it should. 

Each family is different. A geneticist or genetic counselor can give you advice on the chance that this will happen again in your family.

The risk of having another child who has CHAMP1-related syndrome depends on the genes of both biological parents.

• If neither biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is on average 1 percent. This 1 percent chance is higher than the chance of the general population. The increase in risk is due to the very unlikely chance that more of the mother’s egg cells or the father’s sperm cells carry the same genetic variant.
• If one biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is 50 percent.

For a symptom-free brother or sister of someone who has CHAMP1-related syndrome, the sibling’s risk of having a child who has CHAMP1-related syndrome depends on the sibling’s genes and their parents’ genes.

• If neither parent has the same genetic variant causing CHAMP1-related syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who would inherit CHAMP1-related syndrome.

As of 2024, over 53 people with CHAMP1-related syndrome have been identified in a medical clinic. 

People who have CHAMP1-related syndrome may look different. Appearance can vary and can include some but not all of these features: 

• Open mouth 
• Thin upper lip 
• Low muscle tone in the face 
• Longer than average face 
• Pointed chin 
• Low-set ears

Scientists and doctors have only just begun to study CHAMP1-related syndrome. At this point, there are no medicines designed to treat the syndrome. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:

• • Physical exams and brain studies
  • Genetics consults
  • Development and behavior studies
  • Other issues, as needed

A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:

• • Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
  • Guide individualized education plans (IEPs).

Specialists advise that therapies for CHAMP1-related syndrome should begin as early as possible, ideally before a child begins school.

If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: www.epilepsy.com/learn/types-seizures.

Researchers think that genetic variants causing CHAMP1-related syndrome result in differing medical features, depending on the variant. People with truncating variants might have more severe medical features than people with a deletion that includes the CHAMP1 gene. The information below includes all people with a pathogenic or likely pathogenic variant that causes CHAMP1-related syndrome.  

Speech and Learning 

People with CHAMP1-related syndrome had developmental or intellectual disability, and speech delay. 

• 33 out of 33 people had developmental delay or intellectual disability (100 percent) 
• 20 out of 20 people had speech issues (100 percent) 

Behavior 

Behavioral issues occurred in people with CHAMP1-related syndrome, including friendly behavior, autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD), aggression, self-injury, and inappropriate laughter. 

• 8 out of 10 people had friendly behavior (80 percent) 
• 13 out of 40 people had autism spectrum disorder (33 percent)
• 9 out of 40 people had ADHD (23 percent)

Brain 

About 1 in 5 people with CHAMP1-related syndrome had seizures. People had a smaller than average head size (microcephaly) and brain changes observed on magnetic resonance imaging (MRI). Brain changes included developmental defects of the corpus callosum, decreased cerebellar size, and abnormal white matter (delayed myelination or under myelination). Some people had a larger than average head size (macrocephaly). 

• 9 out of 44 people had seizures (21 percent)
• 22 out of 45 people had microcephaly (49 percent)
• 13 out of 35 people had brain changes on MRI (37 percent)

Mobility 

Most people with CHAMP1-related syndrome had lower than average muscle tone (hypotonia) and were able to walk independently over the age of 2 years old. A few people had spasticity. 

• 24 out of 31 people had hypotonia (77 percent) 

Feeding and digestion  

People with CHAMP1-related syndrome had neonatal feeding difficulties and gastroesophageal reflux disease (GERD). 

• 23 out of 42 people had neonatal feeding difficulties (55 percent)
• 17 out of 42 people had GERD (41 percent)

Simons Searchlight

Simons Searchlight is an online international research program, building an ever growing natural history database, biorepository, and resource network of over 175 rare genetic neurodevelopmental disorders. By joining their community and sharing your experiences, you contribute to a growing database used by scientists worldwide to advance the understanding of your genetic condition. Through online surveys and optional blood sample collection, they gather valuable information to improve lives and drive scientific progress. Families like yours are the key to making meaningful progress. To register for Simons Searchlight, go to the Simons Searchlight website at www.simonssearchlight.org and click “Join Us.”

• Learn more about Simons Searchlight – www.simonssearchlight.org/frequently-asked-questions
• Simons Searchlight webpage with more information on CHAMP1 – www.simonssearchlight.org/research/what-we-study/champ1
• Simons Searchlight CHAMP1 Facebook community – https://www.facebook.com/groups/champ1