Table 5.

Treatment of Manifestations in Individuals with Allan-Herndon-Dudley Syndrome (AHDS)

Manifestation/
Concern		TreatmentConsiderations/Other
DD/ID See DD/ID Management Issues.
Poor weight gain /
Failure to thrive
  • Feeding therapy
  • Nissen fundoplication & gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Gastrointestinal
  • Constipation: laxatives, enemas, transanal irrigation
  • Feeding difficulties: See DD/ID Management Issues.
  • Symptomatic GERD: antireflux therapy
Management may improve weight gain & ↓ abnormal movement
Drooling Glycopyrolate or scopolamineConsider the ↑ risk for hyposalivation assoc w/↑ risk for dental caries
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & falls
  • To prevent contractures
  • Consider need for positioning & mobility devices, disability parking placard.
Dystonia Medications such as anticholinergics, L-DOPA, carbamazepine, or lioresalThese therapies have shown no or mild efficacy. DBS has not been evaluated.
Choreoathetosis No specific medicationDBS has not been evaluated in AHDS.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many different ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Musculoskeletal
  • Hip dislocation &/or kyphoscoliosis: orthopedic surgery
  • Osteoporosis: calcium & vitamin D supplementation; bisphosphonate therapy as needed
Thyroid test
abnormalities 		None
Dysthyroidism Treatment of tachycardia &/or high blood pressure, when evident
Sleep disorder First consider sleep education; then melatonin or hydroxyzine dichlorhydrate as first medications
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.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; DBS = deep brain stimulation; DD = developmental delay; GERD = gastroesophageal reflux disease; 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: Allan-Herndon-Dudley Syndrome

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