Table 5.

Treatment of Manifestations in Individuals with PPP1R12A-Related Urogenital and/or Brain Malformations

Manifestation/
Concern		TreatmentConsiderations/Other
46,XY DSD
  • Consider gonadectomay in those w/dysgenetic gonads.
  • In 46,XY undervirilized persons, referral to urologist or gynecologist for standard treatment of atypical genitalia/hypospadias, cryptorchidism, &/or urogenital sinus anomalies
  • Standard treatment of hormonal issues at & after puberty, incl sex HRT
Renal anomalies Standard treatment per nephrologist &/or urologist
Epilepsy Treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Poor weight
gain/FTT/
GERD/
Aspiration
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues or FTT.
Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia, incl episodes of aspiration pneumonia
Constipation Stool softeners, prokinetics, osmotic agents, or laxatives as needed
Bowel atresia Standard treatment per surgeon & gastroenterologist
Hearing
impairment 		Standard therapy per audiologist
Abnormal
vision &/or
strabismus 		Standard treatment(s) as recommended by ophthalmologistCommunity vision services through early intervention or school district
Kyphoscoliosis/
Joint contractures 		Standard treatment per orthopedist
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications & supplies.
  • Ensure psychological support for those w/gender identity concerns.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

DSD = differences of sex development; ASM = anti-seizure medication; DD = developmental delay; FTT = failure to thrive; GERD = gastroesophageal reflux disease; HRT = hormone replacement therapy; ID = intellectual disability; OT = occupational therapy; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

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

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