NEDLAAD – Symptoms
• Children with NEDLAAD typically have delayed speech development (in all cases).
• Many also experience learning difficulties or intellectual disabilities (83% of cases).
• Attention deficit hyperactivity disorder (ADHD) is very common (82%).
• About two-thirds are also diagnosed with autism spectrum disorder (67%).
• Some children show developmental delays in other areas, like motor skills (42%).
• Seizures occur in about one-third of cases (33%).
Other health issues can include:
• Subtle differences in facial features (nothing specific or easily recognizable),
• Breathing problems,
• Bone and eye abnormalities,
• Hearing loss,
• Digestive issues.
When do symptoms appear?
Symptoms usually start in infancy and become noticeable around two years of age, especially because of delayed speech.
Interestingly, as patients grow older — particularly in adulthood — language skills often improve, and some symptoms may become less severe.
CONDCAC – Symptoms
• The few patients described had brain shrinkage (cerebral and/or cerebellar atrophy).
• They showed learning difficulties or intellectual disabilities.
• Bulbar symptoms (trouble speaking, swallowing, and breathing properly),
• Poor control of the trunk (trunk instability),
• Loss of coordination (ataxia),
• Muscle weakness and reduced muscle (hypotrophy).
In one patient, additional symptoms included:
• Damage to nerves controlling muscles (neurogenic fiber atrophy),
• Widespread nerve problems (sensorimotor axonal neuropathy),
• Difficulties with social interaction,
• Worsening memory and thinking skills (cognitive decline),
• Attention problems,
• Curved spine (scoliosis),
• Walking difficulties (gait abnormalities).
When do symptoms appear?
Symptoms usually begin in childhood or early teenage years (before age 14).
Unfortunately, the condition worsens over time, and patients often eventually require a wheelchair or become bedridden.
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