PPM1D

Management

In the future, disease specific management and surveillance strategies will be developed, based on an extensive clinical data set and longitudinal data. For now, there are mainly general advices:

  • Routine medical care by a pediatrician or other primary physician
  • Involvement of a clinical geneticist following the initial diagnosis

Intellectual disability/developmental delay and behavioral problems
Development of a comprehensive management plan by therapist and pediatrician. Speech therapy and other interventions to augment communication, educational programs directed to specific disabilities identified.

Sensitivity for sounds
Retraining therapy, based on acoustic therapy and counseling can help diminish hypersensitivity. Acoustic therapy can be used to decrease individuals’ sensitivity to sounds, while counseling can be used for coping.

Other neurological symptoms
Treatment, focusing on support and improvement of muscle function through physiotherapy.

Visual impairment
If the individual has not been seen by an ophthalmologist, referral for ophthalmological evaluation at time of diagnosis is advised. Routine ophthalmologic examinations for myopia, hypermetropia and strabismus.

Periodic illness
Evaluation for possible underlying cause when needed and treatment of symptoms.

Other symptoms
Monitoring for progressive spine deformities.