Ayuda para las familias
Prioridades diagnósticas
Recomendaciones clínicas tras la identificación de una variante patógena del gen CASK. Basándose en la experiencia clínica colectiva de la Fundación de Investigación CASK, se recomiendan las siguientes pruebas iniciales y consideraciones continuas para los niños tras la confirmación de una variante patógena o probablemente patógena en el gen CASK.
Pruebas diagnósticas iniciales
Como mínimo, se recomienda realizar las siguientes evaluaciones especializadas en el momento del diagnóstico o poco después:
- 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.
Aportaciones multidisciplinares previstas
Además de lo anterior, es probable que muchos niños necesiten un apoyo multidisciplinar continuado, que incluye:
- 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.
Vigilancia clínica y consideraciones sobre el tratamiento
Los pediatras y los especialistas pertinentes deben tener en cuenta las siguientes características que se observan con frecuencia en niños con trastornos relacionados con el síndrome de 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.
