Table 3 Multidisciplinary assessment of patients with ALMS

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

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.

[53]

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]