Apoio às famílias
Prioridades de diagnóstico
Recomendações clínicas após a identificação de uma variante patogénica do gene CASK. Com base na experiência clínica coletiva da Fundação de Investigação CASK, recomenda-se que sejam realizadas as seguintes investigações iniciais e que sejam tidas em conta as seguintes considerações no caso de crianças após a confirmação de uma variante patogénica ou provavelmente patogénica no gene CASK.
Exames diagnósticos iniciais
Recomenda-se, no mínimo, a realização das seguintes avaliações especializadas no momento do diagnóstico ou pouco tempo depois:
- Audiological evaluation — to assess for hearing impairment.
- Ophthalmological assessment — to evaluate visual function and structural anomalies.
- Neurological review — including developmental assessment and surveillance for seizure activity.
- Physiotherapy assessment — to evaluate gross motor function, tone, posture, and mobility needs.
Contribuição multidisciplinar prevista
Para além do acima referido, é provável que muitas crianças necessitem de um apoio multidisciplinar contínuo, incluindo:
- Occupational therapy — to support fine motor skills, adaptive functioning, and sensory integration. Coordination issues are extremely common.
- Speech and language therapy — for communication needs and management of feeding and swallowing difficulties.
- Social care needs assessment — reassessments should be undertaken as needs change.
Considerações sobre a vigilância clínica e o tratamento
Os pediatras e os especialistas na área devem estar cientes das seguintes características frequentemente relatadas em crianças com doenças associadas à CASK.
- Growth patterns. Growth may be atypical, including reduced weight and stature. Clinical focus should prioritise overall health and nutritional adequacy rather than strict adherence to standard growth centiles.
- Gastro-oesophageal reflux. Reflux may present as pain or distress.
- Constipation. A common issue, even if stools appear soft.
- Sleep disturbance. Sleep difficulties may develop and may warrant medicating.
- Spinal monitoring. Surveillance for scoliosis is advised, with referral to orthopaedic services as clinically indicated.
- Feeding difficulties. Feeding challenges are common; involvement from a dietician may be required to optimise nutritional status and growth.
- Epilepsy risk. Increased risk of epilepsy. Infantile spasms are among the most commonly reported seizure types and, notably, may present beyond the first year of life. Ongoing neurological surveillance is therefore recommended.
- Sensory processing differences. Where behavioural concerns arise, assessment for sensory processing differences is advised. Both sensory-seeking behaviours and sensory aversions have been observed and may contribute to distress or functional impairment.
