Features of PADDAS. This is a genetic condition and is not caused by environmental exposures or events during pregnancy or in early infant life. Not all individuals with have all features.
- Delayed development/ intellectual disability: Individuals so far reported to have PADDAS have had some degree of delay in the development of their motor skills, learning skills (developmental delay), or intellectual disability. How much an individual is affected can vary significantly between individuals and between families. Individuals with PADDAS are likely to require ongoing support throughout their lifetime.
- Speech and Language: Many individuals so far described with PADDAS have been slower to learn to understand language and speak. Some individuals understand language well but have difficulty controlling the production of speech due to cerebellar dysfunction (they will produce slurred speech, termed dysarthria). Some individuals have not yet been able to learn to speak, and may communicate by alternative methods such as picture exchange systems.
- Attention and hyperactivity: Although many individuals have no behavioural disorders, some are reported as being hyperactive (‘on the go’) or having difficulties with sustained attention. Support is available to help work out the best way to manage these symptoms.
- Seizures: To date, about a third of individuals with PADDAS have developed seizures. These can be mild and easily controlled with treatment, or more severe.
- Eyesight/eyes: Some children have had difficulties with their vision, a turned eye (strabismus) or drooping eyelids (ptosis).
- Other neurological symptoms: Some babies with PADDAS are quite floppy (your doctor may say they have ‘low tone’ or hypotonia). As children with PADDAS start learning to walk, additional features become apparent, such as difficulties in maintaining their balance and walking (this is known as ataxia). They may also be more generally uncoordinated.
- Physical features: Most individuals with PADDAS look like unaffected members of their families. Some individuals have relatively slower growth of their heads resulting in smaller sized heads (postnatal microcephaly). Some individuals have been reported to have distinctive facial features, including ptosis (drooping of the eyelids), ears that are lower in position and a ‘square’ shape to the face.
Features of PRCA. Not all individuals with have these features. Some individuals in a family with PRCA have carried a gene change but not developed any progressive neurological symptoms.
- Slowly progressive adult-onset cerebellar ataxia: Several affected individuals developed an adult-onset, slowly progressive cerebellar ataxia in their 30s or 40s characterised by gait ataxia (unsteadiness when walking), dysmetria (difficulties controlling fine movements of their limbs), dysarthria (difficulties in speech production), and in some cases, diplopia (double vision).
- Brain imaging changes: Some individuals with PRCA have had scans of their brains (MRI or CT) which have shown progressive changes in the appearance of the cerebellum, a part of the brain important in controlling movement.
- Physical features and intelligence: Individuals with PRCA are otherwise healthy, have normal intelligence and look like unaffected members of their families.