Due to the recent discovery of PURA syndrome and the rarity of this condition, there is a limited understanding of specific treatments. There is currently no cure for PURA syndrome. The current emphasis is on identification and surveillance of the PURA syndrome medical associations by optimising management of the medical problems such as epilepsy, encouragement of developmental progression and offering holistic support for patients and families.
Patients with PURA syndrome require a multi-disciplinary team (MDT) to best manage their care. The members of the MDT will be variable globally and is not limited to, but may include a community/developmental paediatrician, geneticist, neurologist, ophthalmologist, community nurses, occupational therapist and physiotherapist. However if other systems are involved specialist advice may be required from a dietician, speech and language therapist, respiratory specialist, cardiologist, endocrinologist, urologist and orthopaedic surgeon.
Management recommendations were made in the PURA-related Neurodevelopmental Disorders GeneReviews article, by Reijnders M R F et al., 2017. They recommended developmental assessment, neurological examination, ophthalmology examination, assessment of vitamin D levels and consultation with geneticist or genetic counsellor. Clinicians should be aware that in the neonatal period respiratory and feeding difficulties occur. Evaluation and management of these will be case specific. For feeding this may require a feeding/swallowing assessment, weight and growth monitoring and support via a nasogastric tube. Depending on if respiratory support is required, further evaluation may include sleep studies and respiratory specialist’s opinion. Respiratory support may be required on discharge from hospital, but this is often not necessary after the first year of life. A few children have required a tracheostomy. Echocardiogram and renal ultrasound should also be considered. A brain MRI may be indicated if there are related seizures, hypoventilation, abnormal vision or eye movements or other atypical features. An EEG may be useful if seizures are suspected. All patients will need regular long-term developmental/community paediatric review with monitoring of neurological, developmental, growth/nutrition, gastrointestinal, endocrine and skeletal consequences. It would also be worth recommending regular eyesight checks. Specific areas of surveillance would include specifically looking for or asking about seizures, developmental milestones, scoliosis and hip dysplasia, constipation and puberty.
Patients may need surgical or pharmacological treatment for some of the manifestations. Examples may include percutaneous endoscopic gastrostomy, orthopaedic procedures and pharmacological treatment for reflux, constipation, vitamin D deficiency and seizures.
Many patients will require medical treatment for epilepsy and movement disorders. Currently the best pharmacological therapies for PURA related epilepsy is unknown. It is important to distinguish between non-epileptic movement disorders and epilepsy.
Other management options include physiotherapy, communication aids, mobility aids, splints and orthoses. An occupational therapist or paediatrician may guide these. Educational and social support will vary globally and will often be guided by the paediatrician.
Genetic counselling should be offered to families.