The mutation, deletion or partial deletion of the CTNNB1 gene varies across those who are diagnosed with CTNNB1 Syndrome. In turn, there are many signs and symptoms of CTNNB1 Syndrome and they occur in different combinations for each child.
For many, a CTNNB1 diagnosis may come after many years of a long and complicated medical journey, misdiagnosis, and, eventually, genetic testing.
What are the Symptoms of CTNNB1 Syndrome?
Symptoms of CTNNB1 appear in early infancy and childhood first presenting as developmental delays. Some children show symptoms similar to cerebral palsy, with spasticity or low tone in the extremities, as well as some autistic traits and behaviors.
Developmental Disorders Symptoms May Include:
- Gross and Fine Motor Delays
- Coordination and Balance Problems
- Attention and Concentration Problems
- Learning Difficulty and Intellectual Disability
- Speech/Communication Delays: Most children have expressive language delays. While some children may have some language, they may be classified as unintelligible and use assistive technology to communicate. Other children may have minimal language or are non-verbal.
Social and Behavioral Issues May Include:
- Heightened Startle Reflex
- Oversensitive or under-sensitive to sounds
- Difficulty dealing with change in routine
- Inability to relate to others
- Inappropriate Play with Toys
- Perseverating or Strange Attachments to objects
- Hyperactivity or Passiveness
- Lack of awareness to danger
- Inappropriate laughing or crying
Other Health Symptoms Some Children Experience:
- Ophthalmologic – Retinal and Optic Nerve Disease
- Orthopedic Dysfunction (Scoliosis)
- Osteopenia and Osteoporosis
- Hypotonia or Muscle Rigidity
- Microcephaly (abnormal smallness of the head, a congenital condition associated with incomplete brain development)
- Oral-Motor Feeding Problems
- Gastrointestinal/Digestive Issues
- Nociception – Impaired Perception of Pain
- Psychiatric – Anxiety, Depression, Autism, and Behavioral Issues