Skip to main content

Fragile X Syndrome

Fragile X Syndrome

Fragile x syndrome is characterised by large ears, velvety skin, flat feet, testicular enlargement after puberty, speech “cluttered” attentional deficit, hand flapping.

Autistic traits. CGG repeats over two hundred.

Support –MDT. Speech and language, physio, psychological techniques for teachers/parents, look at educational needs. family support –carers' assessment.

Genetic Aberration

A mutation on the X chromosome at the Xq27.3 site. 
Fragile-X mental retardation -1 Gene

FMR1 is a human gene that codes for a protein called Fragile-X mental retardation protein (FMRP) that may help regulate synaptic plasticity, important for learning and memory. 


Prevalence

1 of every 1,000 males

1 of every 2,000 females

Intellectual disability

Mild to severe. Eighty per cent of boys with fragile X syndrome have an intelligence quotient lower than 80.

Co-morbidities

Attention deficit hyperactivity, learning disorders, autism spectrum disorders

Physical Features

long face, long ears, high, arched palate, macroorchidism, hyperextensible finger joints, flat feet.

Fragile-X Syndrome is the best answer. An elongated face is the most common physical feature. Prominent ears are also common. Macroorchidism, which refers to an increase in the size of testicles, becomes apparent at age 8 to 10 years and 80% of post-pubertal boys exhibit the feature). These hallmark features are subtle during early childhood and normally only become prominent in early adolescence.

Mitral-valve-prolapse is the most common cardiac abnormality in these patients. Seizures are also common. Septal defects occur in those with down’s syndrome. See List ‎01‑3 Manifestations of Fragile-X Syndrome for details.

An elongated face is the most common physical feature. Prominent ears are also common. Macroorchidism, which refers to an increase in the size of testicles, becomes apparent at age 8 to 10 year and 80% of post-pubertal boys exhibit the feature). These hallmark features are subtle during early childhood and normally only become prominent in early adolescence.

-       List ‎01‑3 Manifestations of Fragile-X Syndrome

Hallmark features

Elongated face

Prominent ears

Macroorchidism[1]        

Other manifestations

High-arched palate

Flat feet

Hyperextensible joints


Behavioural Characteristics

Attention-deficit

Hyperactivity [2]

Autistic symptoms [3]

Aggressiveness

Intellectual disability [4]

Medical

Seizures [5]

Mitral prolapse

What are the physical features seen in patients with Fragile X syndrome?

Patients with Fragile X syndrome have a high rate of what co-morbidities?

Patients with Fragile X Syndrome have what severity of intellectual disability?

What is the prevalence of Fragile X Syndrome?

Describe the chromosomal aberration in Fragile X syndrome.



[1] an increase in the size of testicles become apparent at age 8 to 10 year and 80% of post-pubertal boys exhibit the feature

[2] Most common behavioural manifestation

[3] Such as hand flapping, hand biting, perseverative speech, shyness, poor eye contact

[4] Intellectual functioning differs in individuals with fragile-X, ranging from average intelligence to severe intellectual disability. Verbal IQ is more likely to be impaired.

[5] Most common neurological condition

Comments

Popular posts from this blog

ADVOKATE: A Mnemonic Tool for the Assessment of Eyewitness Evidence

ADVOKATE: A Mnemonic Tool for Assessment of Eyewitness Evidence A tool for assessing eyewitness  ADVOKATE is a tool designed to assess eyewitness evidence and how much it is reliable. It requires the user to respond to several statements/questions. Forensic psychologists, police or investigative officer can do it. The mnemonic ADVOKATE stands for: A = amount of time under observation (event and act) D = distance from suspect V = visibility (night-day, lighting) O = obstruction to the view of the witness K = known or seen before when and where (suspect) A = any special reason for remembering the subject T = time-lapse (how long has it been since witness saw suspect) E = error or material discrepancy between the description given first or any subsequent accounts by a witness.  Working with suspects (college.police.uk)

ICD-11 Criteria for Anorexia Nervosa (6B80)

ICD-11 Criteria for Anorexia Nervosa (6B80) Anorexia Nervosa is characterised by significantly low body weight for the individual’s height, age and developmental stage that is not due to another health condition or to the unavailability of food. A commonly used threshold is body mass index (BMI) less than 18.5 kg/m2 in adults and BMI-for-age under 5th percentile in children and adolescents. Rapid weight loss (e.g. more than 20% of total body weight within 6 months) may replace the low body weight guideline as long as other diagnostic requirements are met. Children and adolescents may exhibit failure to gain weight as expected based on the individual developmental trajectory rather than weight loss. Low body weight is accompanied by a persistent pattern of behaviours to prevent restoration of normal weight, which may include behaviours aimed at reducing energy intake (restricted eating), purging behaviours (e.g. self-induced vomiting, misuse of laxatives), and behaviours aimed at incr

ICD-11 Criteria for Schizophrenia (6A20 )

ICD-11 Criteria for Schizophrenia (6A20 ) Schizophrenia is characterised by disturbances in multiple mental modalities, including thinking (e.g., delusions, disorganisation in the form of thought), perception (e.g., hallucinations), self-experience (e.g., the experience that one's feelings, impulses, thoughts, or behaviour are under the control of an external force), cognition (e.g., impaired attention, verbal memory, and social cognition), volition (e.g., loss of motivation), affect (e.g., blunted emotional expression), and behaviour (e.g., behaviour that appears bizarre or purposeless, unpredictable or inappropriate emotional responses that interfere with the organisation of behaviour). Psychomotor disturbances, including catatonia, may be present. Persistent delusions, persistent hallucinations, thought disorder, and experiences of influence, passivity, or control are considered core symptoms. Symptoms must have persisted for at least one month in order for a diagnosis of schi