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![Page 1: Diagnosis and Management of children with Alstrom syndrome Timothy Barrett School of Clinical and Experimental Medicine College of Medicine and Dentistry.](https://reader030.fdocuments.us/reader030/viewer/2022032518/56649cca5503460f94992de1/html5/thumbnails/1.jpg)
Diagnosis and Management of children with Alstrom syndrome
Timothy Barrett
School of Clinical and Experimental Medicine
College of Medicine and Dentistry
University of Birmingham, UK
March 2012
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Summary
• Case studies
• System assessments
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Child A: White European family
• Healthy baby • Photophobia, retinal dystrophy in infancy• Obesity from infancy• Deafness• Struggled at school• Diagnosed at 7 years• Fatty Liver disease and glucose intolerance• 13 years insulin resistant diabetes• Heterozygous mutations in ALMS1
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Children B and C (S Asian, parents first cousins) • Healthy babies, obese in infancy• Diabetes at 6 months treated with tablets• Rod-cone dystrophy but no photophobia• Profound sensorineural deafness• Seen in Alstrom clinic aged 8 and 10 years
– Not obese, not diabetic• Sideroblastic anaemia in Sara aged 11 years• Mutations in SLC19A2 gene (Rogers syndrome)
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Child D (South Asian, parents first cousins)
• Photophobia in first 3 months• Cardiomyopathy• Severe developmental delay with microcephaly• Sensorineural deafness• Slim, feeding difficulties• Now aged 6 years, attends Alstrom clinic• Homozygous ALMS1 mutation; probable co-
inheritance of microcephaly
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Child E: (South Asian, parents first cousins)
• Obesity onset in infancy• Retinal dystrophy in childhood, loss of night vision• Mild learning difficulties• Flat feet• Extra digits removed at birth, when questioned • Hyperechogenic kidneys on antenatal scan, now
normal • Homozygous mutation in BBS1
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Child F: boy, white European parents • Normal birth, failed hearing test: sensorineural loss
at high frequencies, now hearing aids• BMI: overweight but not obese • No eye problems noted as a baby, no nystagmus• Now aged 5 poor visual acuity, sunlight hurts eyes• Mild learning difficulty• Family history of diabetes on Mother’s side• On examination, possible dental enamel problem• Initial Alstrom screen negative
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Who gets genetic testing?
DD Alstrom, Bardet Biedl, TRMA, Lowe’s, others
? Add photophobia
Consider co-inherited diseases
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Who gets genetic testing in childhood?
Infancy onset retinal dystrophy with photophobia
Infancy onset cardiomyopathy
Relative with Alstrom syndrome
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What needs to be offered at MDT annual clinics?
EndocrineOphthalmology
CounsellingDietetics
Genetics
AS-UK
CNS
Cardiology
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Paediatric cardiology
• Annual ECG: look for heart strain, abnormal rhythm• Annual Echocardiogram: wall movement
abnormalities• ? Blood test for brain natiuretic peptide• ? Cardiac MRI• Decision on whether/when to add in medicines
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Vision assessment
• Ophthalmology referral usually done locally. We will offer at BCH if local provision inadequate. – Progressive loss of vision over childhood– Potential for cataracts but significance?
• Low vision aids• Early development of low vision skills• Preparation for college for the blind:
– Career counselling
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Dietetics
• Annual BMI, body composition by bioimpedance• Completion of food diary• Dietetic advice
– Healthy eating; protein, carbohydrate, fat, vitamins and minerals to allow healthy growth
– Calorie intake to same age child of average weight • Exercise advice
– Within limits of mobility, vision• ? Does fat mass reduction help insulin resistance?
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Clinical psychology support
• Identifying emotional or behavioural issues• Both child and parents• Need for CAMHS referral?• Need to liaise with SENCO at school?• Follow-up: local children ongoing care• Follow-up other children: Liaise with local clinical
psychology services
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Physiotherapy
• Assessment of mobility, posture• Teaching posture and exercises
– Mostly positional upper spine kyphosis, correctable with posture training
– Occasional kyphoscoliosis– No clear enthesitis in children
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Hearing assessment
• Audiometry– Classically high tone sensorineural deafness– Progressive – Hearing aids in school
– ? Repeated every 2 years– Mostly done locally but we do offer at BCH if not
done within last 2 years
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Diabetes mellitus
• Progression of insulin resistance to type 2 diabetes• Screen from puberty (10yrs) with HbA1c, fasting
glucose. • If abnormal, then home blood glucose monitoring.
• ? Should we do glucose tolerance tests?
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Endocrine/metabolic
• Puberty: look for delayed puberty: >14yrs girls, >16yrs boys
• Thyroid: Baseline at diagnosis.• Liver function: annually • Fasting lipids and cholesterol: annually
• ? Should we screen for thyroid disease more frequently?
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Renal
• Annual renal function: urea, creatinine• Ambulatory blood pressure monitoring• Early morning urine for albumin creatinine ratio
– If raised, then repeat x 2.
• ? Need to audit ambulatory blood pressure monitoring
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Bladder function
• History of bedwetting, accidents – First optimize glucose control– Exclude or treat infections, ? diabetes insipidus
• Urodynamic assessment– Bladder volumes, detrusor muscle instability
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Other
• Respiratory? • Dermatology• ENT
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Thankyou!
• Lead paediatric service: Timothy Barrett• Clinic administrator: Lesley Porter• Paediatric cardiologist: Ashish Chikermane• Paediatric diabetes specialist nurse: Kirsty Mobberley• Paediatric Dietician: Hazel Riggall• Clinical Psychologist: Jenny Allman• Physiotherapy: Liz Wright, Gemma Mears• Genetics: Denise Williams