Showing posts with label Intellectual Disabilities. Show all posts
Showing posts with label Intellectual Disabilities. Show all posts

Tuesday, 30 March 2021

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. 


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.


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


Other manifestations

High-arched palate

Flat feet

Hyperextensible joints

Behavioural Characteristics


Hyperactivity [2]

Autistic symptoms [3]


Intellectual disability [4]


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

Sunday, 24 January 2021

Postnatal Causes of Learning Disability (Intellectual Disability)

Postnatal Causes of Learning Disability (Intellectual Disability)

Postnatal causes of learning or intellectual disability include head injury, infections, neurodegeneration, and toxicities. A study on the causes of developmental disability found bacterial meningitis, child battering, vehicle-related injuries, and otitis media as the most common causes. However, a developmental disability is a broader term that can include motor developmental disabilities too. The results still give us an idea as this overlap heavily with causes of pure intellectual disability. See Table 1.

Table 1: Most Common Causes of Developmental Disability

Bacterial meningitis


Child battering


Motor-vehicle- related injuries


Otitis media


Postnatal causes of developmental disabilities in children aged 3-10 years -- Atlanta, Georgia, 1991. MMWR Morb Mortal Wkly Rep 1996 Feb 16 45 130134

Head injury

  1. Traumatic (accidental) brain injury; one of the most preventable causes of intellectual disabilities.
  2. The shaken baby syndrome is the most common cause of non-accidental head injury that affects developing brains. 
  3. They classify postnatal hypoxia as a perinatal cause if this occurs immediately following birth. However, if it occurs later, we may classify it as another postnatal cause of intellectual disability. 


  1. Meningitis, especially bacterial meningitis, is one of the most common causes of intellectual disability. 
  2. Encephalitis, that might be viral can also cause intellectual disability. At a later age, the international classification of disease categories the sequelae of encephalitis under organic mental conditions as a postencephalitic syndrome. 

Degenerative or demyelinating disorders 

Rett syndrome 

Signs of intellectual (learning) disability appear in girls with Rett syndrome at around 18 months to four years of age. Rett syndrome is a genetic disorder that occurs to due MeCP2 gene mutation; it is prenatal, but the appearance of intellectual disability is postnatal. 


Children with frequent recurrent epileptic fits, for example, those with infantile spasms may develop intellectual disability because of brain injury. Children who experience more frequent fits and those who have more severe seizures are more likely to develop seizures than others. 

Toxic-Metabolic Disorders

Lead poisoning 

Lead poising could occur in areas where they still use lead in gas and other chemicals. Lead poising is a highly preventable cause of intellectual disabilities. 


Malnutrition is a relevant cause of intellectual disability in countries with chronic malnutrition, it is a rare cause of intellectual disabilities overall, especially in developed countries. 

Environmental Deprivation

Non-stimulating environments impact intellectual development, for example, long-term institutional care. Severe long-term institutional deprivation could more likely cause intellectual disability than less severe brief institutionalisation. 


Thursday, 7 January 2021

Tuberous sclerosis

Tuberous Sclerosis

Tuberous sclerosis (epiloia) has an Autosomal dominant inheritance pattern. Clinical features include Epilepsy, adenoma sebaceous on the face, white skin patches, shagreen skin, retinal phakoma, subungual fibromata, multiple renal, and other tumors. ID usually is Mild. Autism and other psychiatric disorders are common.

Saturday, 19 December 2020

What are the components of the Positive behavior support (PBS)

Components of the Positive behavior support (PBS)

  1. System change
  2. Environmental alterations
  3. Skill intrusion—teaching the student alternative behaviors
  4. Behavioral consequences

What is functional communicative training?

Functional communicative training:

Teaching children to ask for what he/she wants through language instead of problem behavior.

Tuesday, 15 December 2020

What is the discrete trial format?

The discrete trial format:

It is one to one, Short and clear instructions, Planned, uses prompting and prompt fading, reinforcement.

Monday, 14 December 2020

1960s Psychoanalytic Approach to Children with Autism

The 1960s psychoanalytic approach to children with autism:

Base on Lovaas- socialization study

Building social behavior in children with autism by use of electric shock. Method- use of identical twins: Tell them to come here and shock them until they move toward the experimenter. They based applied behavior analysis on it, supported by decades of research behind the Lovaas approach and more if you include the research into Skinner's theories, on which they base it.

Predictors of response

  1. Early: better the outcome in younger children. 
  2. Intensive more sessions per week. 
  3. Duration: longer duration of therapy. 
  4. With Parents: Children accompanied by parents in therapy do better.

Friday, 1 July 2016

Most Common Malignancy in Down's Syndrome

Most Common Malignancy  in Down's Syndrome

The most common Malignancy in Downs Syndrome is Leukemia. Please read the topic on Down's Syndrome in the Shorter Oxford Textbook of Psychiatry, 7th Edition. 

Friday, 24 June 2016

Fetal Alcohol Syndrome (Mnemonic)


  • 1 n in 3000

  • Facial asymetry

  • Irritability

  • Microcepahlly, mild to moderate MR

  • Hyperactivity

  • Ears being low set

  • Upper Lip deformity

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