Given the pleiotropic nature of the syndrome, a multidisciplinary management is required.
Medical assessment at baseline should include:
• Family history
• Anthropometric assessment, vital signs and clinical examination
• Neuropsychological testing adapted to age and low vision
• Ophthalmological evaluation: complete eye examination, visual acuity, visual field testing, fundus examination, electroretinogram (generally from 4–5 years of age) and, if necessary, visually evoked responses and optical coherence tomography (OCT)
• Orodental assessment
• Audiometry
• Echocardiogram, electrocardiogram (ECG)
• Abdominal ultrasound
• Analysis of renal function, including the estimation of the glomerular filtration rate (GFR), albuminuria, electrolytes and acid base balance; urine osmolality
• If neurological abnormalities are present, consider brain magnetic resonance (MRI)
• Laboratory tests: liver function tests, complete blood count, electrolytes, creatine, urea, lipid panel, blood glucose (HbA1c, oral glucose tolerance test for older children/adults and plasma insulin concentration), gonadotropins and sex hormones (if in age of puberty), thyroid hormones
• Genetic analysis and counseling.
Major clinical signs are treated by specific specialists, including nephrologist, dental specialist, endocrinologist, psychologist/psychiatrist, dietitian, ophthalmologist, gastroenterologist, neurologist, urologist, gynecologist, dermatologist and others.
Early educational planning (eg: Braille, mobility training, dedicated software for electronic devices) is fundamental to reduce the impact of vision loss. Low vision aids are also important when vision begins to decrease, and tinted glasses can be used if photophobia is present. Sometimes correction of refractive errors is also needed. In case of cataracts, surgery should be considered.
In the presence of cognitive impairment and/or developmental delay, it is pivotal an early, age-based and personalized treatment with special education, speech therapy and physiotherapy. A clinical psychologist or a psychiatrist could be necessary if the patient shows behavioral disorders. Patients with autism-related symptoms can receive treatment of autism spectrum disorder, like ABA (applied behavior analysis).
Follow-up is personalized. In case of chronic kidney disease (CKD), monitoring complications is mandatory, as in general population. Specific intervention to slow the progression of CKD are unknown. For patients in end stage renal disease, organ transplantation can be considered, although obesity should be a limit.
A low-calorie diet and aerobic exercises are suggested to try to control obesity; for high-risk obese patients, bariatric surgery has to be considered. Recently, setmelanotide has been approved to treat hyperfagia and consequent obesity.
When present, metabolic syndrome, diabetes and hypertension need monitoring.
Thyroid function has to be controlled annually and, if laboratory values are abnormal, exams for thyroid autoimmunity should be requested.
Surgery has a role in treatment of polydactyly (removal of accessory digits), genitourinary, orodental (eg. dental extraction for dental crowding), heart anomalies and other anatomical abnormalities.
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