Table 6.

Recommended Surveillance for Individuals with PPP1R12A-Related Urogenital and/or Brain Malformations

System/ConcernEvaluationFrequency
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Gastrointestinal Monitor for constipation & feeding difficulties.
Development Monitor developmental progress & educational needs.
Neurologic Monitor those w/seizures as clinically indicated.
Assess for new manifestations such as seizures, changes in tone, movement disorders.
DSD 1
  • Monitor timing & progression of puberty & need for puberty induction & hormone replacement therapy.
  • Assess for gender identity concerns.
At each visit starting in late childhood & through adolescence
Skeletal Monitor skeletal complications such as scoliosis or kyphosis.At each visit until growth is completed
Eyes Ophthalmology evalAnnually or as clinically indicated
Hearing Audiology eval
Miscellaneous/
Other 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

DSD = disorder/differences of sex development

1.

Routine follow up by an interdisciplinary DSD team (if available) including endocrinology, genetics, obstetrics/gynecology, psychology, and urology.

From: PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome

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