What is the diagnostic criteria for Tourettes Syndrome?
- Multiple motor and (1 or more) vocal tics (not necessarily at same time)
- Occurs nearly every day, multiple times a day, for 1 year.
- Onset has to be before 18 yo.
Onset of Tourettes is usually what age?
What is the M:F
7 years old.
M:F (3:1)
What is the general relationship between the following neurotransmitters in the CSF and AGGRESSION?
- DA
- Serotonin
- NE
- GABA
Increase DA in CSF promoted aggression
Increased Serotonin, NE and GABA in CSF seem to inhibit aggression.
5- HIAA (5- hydroxyindoleacetic acid) is a metabolite of what neurotransmitter?
Serotonin
Matachromatic Leukodystrophy (MLD) initially presents a gait disturbance, hypotonia and LE Areflexia, and later progresses to dementia…
What is the inheritance pattern?
What is the pathophysiology of the illness?
Autosomal recessive.
Mutation of ASA gene causing deficiency of ARYLSULFATASE A, causing toxic accumulation of sulfatides in neurons, causing progressive DEMYELINATION.
Matachromatic Leukodystrophy (MLD) initially presents a gait disturbance, hypotonia and LE Areflexia, and later progresses to dementia…
How do you diagnose MLD?
What are the two classic neurophathologic findings in microscopy?
Diagnosis = MRI + Urine assay for increase Sulfatide + Abnormal ASA enzyme assay in leukocytes.
Neuropathologic findings:
- Segmental nerve demyelination
- Metachromatic inclusion in Schwann cells and Macrophages.
Matachromatic Leukodystrophy (MLD) initially presents a gait disturbance, hypotonia and LE Areflexia, and later progresses to dementia…
What is the treatment?
BONE MARROW TRANSPLANT may increase brain ASA enough to slow or even halt progression.
What is the diagnostic criteria for ADHD?
- 6 or more inattentions symptoms OR 6 or more hyperactivity/impulsivity symptoms.
- Onset before 12
- Symptoms in 2 or more settings
- Impairment in functioning
ADHD usually requires 6 or more of inattention or 6 or more hyperactivity/impulsivity symptoms for diagnosis…
IF patient is 17 yo or older, dx only requires how many symptoms?
5
What is the gender ratio for childhood ADHD? Adult ADHD?
Childhood ADHD = 5:1 ratio M:F
Adult ADHD = 1:1
How do you treat mild-mod Tourettes?
Mild-Moderate: Alpha agonist
- Clonidine or Guanfacine
Severe
- Risperdal
Unresponsive to above:
- Pimozide (but very QT prolonging so avoid in cardiac problems)
What is the most common GENETIC cause of Intellectual disability?
Most common INHERITED cause of ID?
Most common PREVENTABLE CAUSE of ID?
GENETIC = Downs syndrome (not inherited bc due to non-disjunction of chromosome 21)
INHERITED = Fragile X
PREVENTABLE = Fetal alcohol syndrome
What is the Individuals with Disability Education Act?
Makes available FREE educational public education programs for children with disabilities (from birth to 21 yo) Covers early intervention and special Ed. It is the school’s responsibility to identify students in need.
