ausdoc . com . au 6 DECEMBER 2024 |
HOW TO TREAT 31 |
||
Figure 3 . Four brothers with typical physical features of FXS . All four boys have prominent broad foreheads , high palate , joint hypermobility and especially prominent ear pinnae . The family have given consent to publish this picture . |
Protic DD et al . Int J Mol Sci 2022 / CC BY 4.0 / bit . ly / 3YzrAHh |
Peter Saxon / CC BY-SA 4.0 / bit . ly / 45j5xql |
Figure 4 . Long face in fragile x syndrome . |
Freund et al , females were found to be more vulnerable to social anxiety and social avoidance and experienced more depression than their IQ- and age-matched peers . 5 The same study also revealed greater deficits in interpersonal and social skills compared with their peers . 5 In females with FXS , it is thought that the atypical development of social skills may lead to a wide range of anxiety symptoms or |
Peter Saxon / CC BY-SA 4.0 / bit . ly / 3OMdIGs |
Harry Gouvas / CC BY-SA 3.0 / bit . ly / 452304a |
|||||||
disorders . 5 |
|||||||||
Irritability is a comorbid symptom |
|||||||||
that can cause major impairment . 10 In addition to irritability , symptoms |
|||||||||
of agitation , aggression and self-injurious |
|||||||||
behaviours may occur in up to 50 % of males with FXS . 5 Parents and carers have noted these as the most |
|||||||||
difficult behaviours to deal with . 12 |
|||||||||
ASD occurs in 30-75 % of males |
|||||||||
with FXS and up to 20 % of females |
|||||||||
|
with FXS . 1
Marlborough et al in a review of various studies reported that the level of intellectual disability and FMRP
|
Figure 5 . Prominent ears in fragile X syndrome . |
Figure 6 . Flat feet . |
|||||
levels were associated with ASD in |
|||||||
|
FXS . 12
Children may also demonstrate
|
common in females . The average IQ in men with FXS is 40 – 50 , with |
global developmental delay . Therefore , consider referral for FXS test- |
Box 3 . Differential diagnosis |
||||
|
stereotypic movements such as biting their hands or other objects , hand flapping or rocking , limited eye contact , memory difficulties , shyness , and problems with face encoding . 2 , 5 , 8
Hyperactivity is common , with 90 % of males and about 50 % of females meeting the DSM-5 criteria for ADHD . 1 ADHD is characterised by a persistent pattern of inattention and / or hyperactivity and compulsivity that are more disruptive compared to children of the same age . 8 These symptoms become more noticeable after the age of two years and by the age of six many children are being treated with stimulant medication . 1 Untreated ADHD may impact on academic performance and the ability to benefit from interventions such as speech therapy and occupational therapy .
|
a mental age of about of 5 – 6 years . Females with FXS are often less affected than males , with about 25 % having cognitive impairment and others frequently being diagnosed with learning disabilities . 12 In females , cognitive functioning can vary from moderate intellectual disability to an above average intelligence . These girls , however , may have issues with impaired spatial reasoning skills , mathematics and issues with executive functioning . As the girls get older , the difficulties become more marked . This is most likely because of a slowing in the ability to develop new skills compared with their typically developing peers . 5
Strengths
People FXS are often empathetic , have a friendly and sociable nature ,
|
ing in any child ( male or female ) with gross and fine motor delay , speech and language delay , or cognitive delay of unknown aetiology . The differential diagnoses of FXS appear in box 3 .
FRAGILE X- ASSOCIATED TREMOR / ATAXIA SYNDROME
FRAGILE X-associated tremor / ataxia
syndrome ( FXTAS ) is a neurodegenerative disorder that occurs in up to 40 % of men and 16 % of women over the age of 60 with the FXS premutation . The condition is characterised by intention tremors , gait ataxia , Parkinson-like signs , cognitive decline and progressive neurodegeneration . 5
Those with FXTAS may also present with neuropathy , short-term memory problems , and autonomic
|
• ASD without FXS : — These children will not exhibit the physical clinical features and may or may not present with the developmental delay associated with FXS . 1
• ADHD without FXS : — These children will not have the physical , behavioural or cognitive features of FXS .
• Prader-Willi syndrome ( see figure 9 ):
— These children present with features similar to those of FXS , such as developmental delay , hypotonia and feeding difficulties , cognitive impairment , and behavioural issues that include obsessive compulsive behaviour , temper tantrums and stubbornness .
— They experience constant and extreme hunger that often leads to obesity .
— The differentiating features include specific facial features , hypogonadism and short stature .
• Sotos syndrome :
— Although these children also present with long faces , learning disabilities , behaviour issues and seizures similar to those with FXS , they differ in that they often present with congenital cardiac abnormalities , neonatal jaundice , renal abnormalities and scoliosis .
Source : Hunter JE et al 2019 14
|
||||
Sleep issues include problems fall- |
and a good sense of humour . They |
dysfunction that causes hyperten- |
|||||
ing asleep , frequent waking at night , |
often have a very good visual mem- |
sion , hypotension , erectile dysfunc- |
Anxiety often presents in child- |
There is currently no specific |
restless sleeping and waking up very |
ory , and good long-term and inciden- |
tion and incontinence . |
hood in premutation carriers . 15 These |
treatment for this syndrome , but |
early . Between 27-77 % of individu- |
tal memory . 13 |
While the features of FXTAS |
conditions require treatment because |
medications to treat the tremors and |
|
als with FXS experience some form of sleep difficulty . 1 , 2
Cognitive abilities
Global developmental delay is more
|
DIFFERENTIAL DIAGNOSIS
IT is difficult to diagnose FXS clinically
in the first two years of life
|
usually develop after the age of 60 , other features — such as anxiety , agitation , insomnia , sleep apnoea , migraine , autoimmune disorders , fibromyalgia and hypothyroidism — |
they can interfere with optimal brain function , particularly as FXTAS progresses . 15
Tremor and ataxia progress more slowly and psychiatric symptoms
|
psychiatric symptoms may be helpful . Those with hypertension require treatment , as do those with hypothyroidism , with treatment for the latter particularly beneficial for women |
common in males with FXS , while |
because symptoms and signs are |
may occur before the onset of FXTAS |
more rapidly in women with FXTAS |
with FXTAS . Tremor may respond |
specific learning difficulties are more |
often similar to other conditions with |
and persist . 15 |
compared with men . 15 |
to a beta-blocker or primidone , but |