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Priorità diagnostiche
Raccomandazioni cliniche a seguito dell'identificazione di una variante patogena del gene CASK. Sulla base dell'esperienza clinica collettiva della CASK Research Foundation, si raccomandano i seguenti esami di base e le seguenti misure da adottare per i bambini a seguito della conferma di una variante patogena o probabilmente patogena nel gene CASK.
Esami diagnostici di base
Si raccomanda di effettuare almeno le seguenti valutazioni specialistiche al momento della diagnosi o subito dopo:
- 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.
Contributo multidisciplinare previsto
Oltre a quanto sopra, è probabile che molti bambini necessitino di un sostegno multidisciplinare continuativo, che comprenda:
- 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.
Sorveglianza clinica e aspetti gestionali
I pediatri e gli specialisti del settore dovrebbero tenere presente le seguenti caratteristiche comunemente riscontrate nei bambini affetti da disturbi correlati alla sindrome di 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.
