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Table 3 Multidisciplinary assessment of patients with ALMS

From: Consensus clinical management guidelines for Alström syndrome

Discipline Features of ALMS for which this discipline may be of assistance Initial Assessment Follow up Reference
Primary care physician Assist with general medical care; coordinate specialists; provide support for family First referral at the time of diagnosis. 6 monthly or les as per clinical need Expert opinion
Geneticists/ clinical scientists Diagnosis of ALMS and exclusion of other disorders in the differential diagnosis; provide counselling for families as to recurrence risk and option for prenatal diagnosis if desired. First referral prenatal or during childhood. Initial assessment: detection of two ALMS1 biallelic variations in the proband. Then, assessment of family segregation to establish the parental alleles. As per request or clinical need [15, 25, 31]
Ophthalmologists Blindness, nystagmus, photophobia; retinal dystrophy. First referral usually before the age of one. Initial assessment includes: standard ophthalmic evaluation, retinal imaging and functional testing (performed according to the age of patient and level of participation). Annually [73]
ENT specialist Progressive bilateral sensorineural hearing loss. First referral usually during childhood. ENT assessment includes otologic examination and audiologic evaluation of both ears. Annually [33]
Cardiologist Infantile, juvenile or adult onset cardiomyopathy; hypertension; coronary artery disease; heart failure. First referral possibly before the age of one. Initial assessment: natriuretic peptides, ECG, transthoracic echocardiography (TTE). In older children and adult, include CMR. ECG - yearly
TTE – yearly or as per clinical need
CMR every 3–5 years
[35, 40]
Pulmonologist Assess for pulmonary fibrosis; restrictive lung disease; pulmonary hypertension. First referral usually during adulthood.
Initial assessment includes Conventional Pulmonary Function test (cPFT) and Chest X-ray. HRCT Thorax in cases of unexplained cough or breathlessness.
cPFT – yearly
HRCT Thorax – as per clinical need
[63, 74]
Endocrinologist/ Metabolic specialist Assess and treatment of metabolic complications (obesity, insulin-resistance, type II diabetes, non-alcoholic fatty liver disease, dyslipidaemia) and endocrine disorders (hypothyroidism, GH deficiency, male hypogonadism, female hypoandrogenism). First referral during childhood
Initial assessment:
1. Anthropometric measurements
2. Thyroid Function Test (TFT), Pituitary and sexual hormones
3. Blood glucose, HbA1c and lipid profile.
Every 6–12 months in children, then yearly
Every 6–12 months or as per clinical need
[13, 25, 45, 48]
Gastroenterologist/hepatologist Assess for liver fibrosis/cirrhosis and the complications (portal hypertension, hepatocellular cancer, liver failure). First referral: from childhood to adulthood
Initial assessment: Liver function tests, platelet count, liver ultrasound, transient elastography and ELF test. Upper gastrointestinal endoscopy (EGD) in case of cirrhosis
Yearly or as per clinical need
Liver ultrasound yearly or as per clinical need.
Nephrologists Assess for progressive renal dysfunction, Chronic Kidney Disease. First referral: from mid-childhood to adulthood
Initial assessment: Kidney function test (including microalbuminuria) and renal ultrasonography
Yearly or as per clinical need [65]
Neurologist Assess of developmental milestones, learning disability and mixed receptive-expressive language delays; seizure and hyporeflexia. First referral during childhood.
Initial assessment: Neurological examination, level of school and social performance, interviews with parents and intelligence tests.
As per clinical need [27, 72]
Anaesthesiologist Assess for anaesthetic risk. First referral as per clinical need. As per clinical need [74]
Clinical psychology/ behavioural therapy team Anxiety, isolation and depression.
Support to personal and group activity.
First referral: from mid-childhood to adulthood
Initial assessment includes:
Yearly or as per clinical need [71]
Expert opinion
Physioterapist Aerobic physical exercise. First referral: from childhood to adulthood, as per clinical need.
Initial assessment: static and dynamic physical examination.
Yearly or as per clinical need. Expert opinion
Dietician Lifestyle modification counselling, personalised diet and weight management. First referral during childhood. Every 6–12 months or as per clinical need [75]
Speech and language therapist Assess of the sensorial impairment including speech perception, speech recognition and sound localisation and distance evaluation First referral during childhood
Consider implication of sensorial impairment in the communication, social interactions, emotional wellbeing, mobility, assistive technology, habitation and rehabilitation potential.
Yearly or as required [76]
Social worker Support of patients and families living with disabilities, who require enhanced resources in the community First referral: from childhood to adulthood As required Expert opinion
Patients’ Association Support to patients and their families
Facilitate clinic and research
First referral at the time of diagnosis As required [77]