The key principles outlined in Valuing People – A New Strategy for Learning Disability for the 21st Century (2001, updated in 2009) are focused on the rights, independence, choice, and inclusion of individuals with learning disabilities. While the strategy does address advocacy, quality of service, and health, these are not considered key principles. The term accountability may be more relevant in the context of the NHS following the Francis Report.

In adults with learning disability, ordering is the most prevalent compulsion, whereas hand-washing, checking, and cleaning are more common in the general population. The prevalence rate of OCD in learning disability is higher at 2.5% compared to the general population. However, it can be challenging to distinguish OCD from other behaviors associated with learning disability syndromes, such as tics, stereotyped behaviors, and autism spectrum disorder. Additionally, assessing obsessional thoughts in individuals with learning disability can be challenging due to their difficulty in articulating them.

Individuals with learning disabilities who belong to black and minority ethnic (BME) groups typically have a strong sense of ethnic identity and adhere to cultural practices related to grooming, attire, and personal hygiene. IQ testing can pose challenges due to variations in educational systems, language barriers, and difficulties in utilizing interpreters. Unfortunately, people with learning disabilities from BME communities often encounter more discrimination, with rates up to twice as high as their white counterparts. They frequently originate from extended families that are not dysfunctional and are often cared for by their relatives rather than in institutional settings. Additionally, they commonly marry and have children.

Smith-Magenis syndrome is characterized by a behavioural phenotype that often involves severe self harm, but it is distinguished by a unique behaviour known as self-hugging. The syndrome is caused by a deletion on chromosome 17 (17p11.2) and is estimated to occur in one out of every 25,000 births. Due to its prevalence and distinct features, Smith-Magenis syndrome is frequently tested on the Royal College examinations and is important to understand in detail.

Individuals with Prader-Willi syndrome can be classified into three genetic subtypes: deletion, maternal disomy, and imprinting defect. The maternal disomy subtype is particularly linked to an increased risk of developing psychosis later in life.

Rett syndrome should be suspected in a young girl who exhibits autistic features and hand wringing movements. Despite having a normal number of chromosomes, a mutation in the MECP2 gene on the X chromosome is believed to be the cause. For more information, please refer to the Rett Syndrome Fact Sheet provided by the National Institute of Neurological Disorders and Stroke.

The patient’s symptoms suggest Landau-Kleffner syndrome, which requires an EEG for diagnosis. This rare disorder causes a child to lose both expressive and receptive language, despite previously developing normally. EEG abnormalities over Broca and Wernicke’s area, particularly during sleep, are common. Seizures may also occur before of after the onset of aphasia. While prognosis varies, Landau-Kleffner syndrome is typically not life-threatening. About two-thirds of children experience a receptive language deficit, while one-third recover completely. Treatment involves antiepileptic medication. CT and MRI scans, as well as CSF analysis, are typically normal. Speech and language therapy may be recommended as part of a multidisciplinary approach. However, EEG testing is essential for diagnosis.