Juvenile-onset Huntington s disease
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1 Juvenile-onset Huntington s disease
2 Presenter Disclosures Martha A. Nance MD The following personal financial relationships with commercial interests relevant to this presentation existed during the past 12 months: Lundbeck Advisory Board
3 Juvenile onset Huntington s disease (JHD) Definition and demographics Clinical differences between JHD and Adultonset HD Diagnosis and management of JHD References
4 What is JHD? Onset of HD in childhood (<18, <20, <21) About 5-10% of HD cases About 90% have an affected father Partially explained by larger CAG repeat numbers in the huntingtin gene (often >60) Bigger increases in CAG repeat number when the gene is passed on by a male (in general)
5 Clinical features of JHD Juvenile-onset HD Adult-onset HD Onset age Under and over Movement disorder Rigidity, dystonia, oral-motor dysfunction Chorea, incoordination Cognitive disorder Failing school performance Executive dysfunction Psychiatric/ behavioral disorder Wide range and variety; (severe) antisocial behavior sometimes seen Other features Seizures (25%) Weight loss Wide range and variety Course?10-15 years years
6 Diagnosis of JHD Recognize a history of cognitive, motor decline Declining academic performance Declining athletic skills Failing to achieve developmental milestones
7 Diagnosis of JHD Possible history of behavioral/ psychological/ psychiatric symptoms Depression, suicidality, obsessive-compulsive Antisocial (sometimes severe) behavior Substance abuse Inappropriate sexual behavior (?attention deficit)
8 Diagnosis of JHD Family history of HD No family history of HD At-risk parent (child diagnosed before parent) nonpaternity adoption
9 Diagnosis of JHD Motor examination Abnormal eye movements Dysarthria, oral-motor dysfunction (eg drooling) Often increased muscle tone/rigidity May have hyperreflexia Abnormal gait and balance; (eg toe-walking, poor tandem, unable to stand on one foot) Cognitive examination Age-inappropriate, or decline on formal testing
10 Diagnosis of JHD MRI may show caudate atrophy, diffuse atrophy, or cerebellar atrophy (in a very young child) Neuropsychological testing shows frontal/prefrontal dysfunction, declining performance over serial tests
11 Diagnosis of JHD CAG repeat analysis of the huntingtin gene shows expanded CAG repeat sequence >50 CAG repeats?
12 Challenges Children with developmental delay/add Missing/absent family history Affected mother Psychiatric-only presentation soft signs -only on examination CAG repeat numbers in the range False-negative gene test result (PCR-based test may miss very large CAG repeats in very young children
13 Challenges MIDDLE GROUND
14 Evaluate the child The middle ground Brain imaging, any appropriate general labwork Formal cognitive assessment Formal psychiatric/psychological evaluation and treatment Optimize the family/school situation Re-evaluate in 6-12 months Consider gene test at that time (if declining)
15 Management of JHD Health professional Neurologist Psychiatrist Psychologist Neuropsychologist Speech therapy Physical therapy Occupational therapy Dietitian Social worker Role in JHD management Team leader, movement disorder, seizures, initiate referrals Psychiatric/behavioral symptoms Behavioral symptoms; family counseling Cognitive assessment and recommendations Assess, treat dysphagia, communication problems Gait disorder, liaise with school on physical education recommendations Safety, functional assessment, equipment Healthy eating; altered food textures; high calorie foods Identify community resources; assist with legal, financial issues
16 Management of JHD Type of professional Pediatrician Dentist Teacher, school officials Lay organization Role in JHD management General, age-appropriate care Age-appropriate care Independent education program Support for patient and family
17 Disability On April 11, 2012, the Social Security Administration announced a compassionate allowance for SSI/SSDI for children with JHD Goes into effect August 2012 Thanks to Jane Kogan, Sam Frank MD and HDSA for negotiating with the SS Admin
18 References Nance MA, The Juvenile HD Handbook. New York, HDSA, Aubeeluck A, Brewer H. Br J Nurs 2008; 135: Nance MA, Myers RH. Ment Retard Dev Disabil Res Rev 2001; 7:
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