Australian Doctor 6th Dec Issue | Page 33

HOW TO TREAT 33
ausdoc . com . au 6 DECEMBER 2024

HOW TO TREAT 33

Table 1 . Medications in FXS Medication Drug class Mechanism of action Target problems Dose / day Common side effects
Sertraline
SSRI
Inhibition of presynaptic neuronal
uptake of serotonin ( 5HT )
Anxiety , aggressive behaviours , social participation , language development in young children
2.5-5.0mg in young children ( 2-6 years )
10-100mg in older children and adolescents
Diarrhoea , loss of appetite , hyperhidrosis , activation ( restlessness , mood changes , disinhibited behaviours ) and tremor .
Up to 200mg per day in adults
Methylphenidate
Central nervous system stimulant
Non-competitively blocks the reuptake of dopamine and noradrenaline
ADHD
Typically 10-60mg per day , depending on the preparation and dosing frequency
Decreased appetite , nausea , headaches , hypertension , irritability and insomnia
Clonidine
Alpha-2 adrenergic receptor agonist
Stimulates presynaptic and postsynaptic alpha-2 adrenergic receptors in the prefrontal cortex
Hyperactivity , overstimulation , attention / concentration problems and aggression , sleep disturbances
Initial dose 0.025mg / day in children and titrate to maximum dose of 0.4mg / day in older children and adults
Sedation , postural hypotension , nausea , constipation , bradycardia , xerostomia
Guanfacine
Alpha-2 adrenergic receptor agonist
Stimulates presynaptic and postsynaptic alpha-2 adrenergic receptors in the prefrontal cortex
Hyperactivity , frustration intolerance , hyperarousal
Initial dose of 0.5mg / day and titrate up to a maximum dose of 4mg / day in adults
Less sedation than clonidine , nausea , constipation , bradycardia , xerostomia
Risperidone
Secondgeneration antipsychotic
Blocks dopamine D2 receptors in the prefrontal cortex and nucleus accumbens
Serotonin and norepinephrine reuptake inhibition
Irritability , aggression , self-injury , social impairment , stereotypic behaviours , psychosis and hyperactivity
0.5-3mg / day based on weight
Available in long-acting injection
Weight changes , metabolic changes , sedation , extrapyramidal symptoms , Parkinsonian features , hyperprolactinemia
Aripiprazole
Secondgeneration antipsychotic
Blocks dopamine D2 , D3 and 5-HT1A ( serotonin ) receptors
Antagonist at the 5-HT2A receptor
Irritability , aggression , agitation , self-injurious behaviours , sleep problems , severe anxiety
2-15mg / day based on weight and age Increase in weight , somnolence ( dose-response relationship ) and extrapyramidal symptoms
Melatonin Biogenic amine / endogenous hormone
Activates melatonin receptors ML1 / ML2 , leading to inhibition of adenylate cyclase and the cAMP signal transduction pathway
Sleep disturbances
Initial low dose of 1mg in young children and titrating up as needed ; maximum dose typically 10mg
Daytime drowsiness , headache , dizziness , nausea
Activation of phospholipase C
Source : Protic DD et al 2022 8
Bellman V et al . Case Rep Psychiatry 2021 / CC BY 4.0 / bit . ly / 45kSLYt
Figure 9 . Prader-Willi syndrome .
Jack ’ s language is also delayed , and
high-pitched screaming , Jack rocking
On examination , Jack has a
testing with routine cytogenetic
diagnosis of ASD requiring substan-
he uses mostly single words . His par-
his body back and forth repeatedly ,
slightly long face and a high arched
studies and screening for FXS and
tial support . Genetic testing docu-
ents have also noted delayed fine
and frequent biting and chewing of
palate . He has an increased carry-
for developmental assessment .
mented a triplet repeat of over 200 ,
motor skills , with Jack needing help
his clothes and fingers . There are fre-
ing angle around his elbow . The
This demonstrates moderate global
confirming a diagnosis of FXS full
with dressing , eating and other fine
quent tantrums that are difficult to
remainder of the examination is
developmental delay and impaired
mutation .
motor skills .
control . Both the pregnancy and birth
normal .
reciprocal communication and
Treatment is initiated with
His parents report a history of
were normal with no complications .
Jack is referred for genetic
socialisation , with a DSM-5 TR
both non-pharmacological and