The first English-language IQ test, the Stanford–Binet Intelligence Scales, was adapted from a test battery designed for school placement by Alfred Binet in France. Lewis Terman adapted Binet's test and promoted it as a test measuring "general intelligence." Terman's test was the first widely used mental test to report scores in "intelligence quotient" form ("mental age" divided by chronological age, multiplied by 100). Current tests are scored in "deviation IQ" form, with a performance level by a test-taker two standard deviations below the median score for the test-taker's age group defined as IQ 70. Until the most recent revision of diagnostic standards, an IQ of 70 or below was a primary factor for intellectual disability diagnosis, and IQ scores were used to categorize degrees of intellectual disability.

Since current diagnosis of intellectual disability is not based on IQ scores alone, but must also take into consideration a person's adaptive functioning, the diagnosis is not made rigidly. It encompasses intellectual scores, adaptive functioning scores from an adaptive behavior rating scale based on descriptions of known abilities provided by someone familiar with the person, and also the observations of the assessment examiner who is able to find out directly from the person what he or she can understand, communicate, and such like. IQ assessment must be based on a current test. This enables diagnosis to avoid the pitfall of the Flynn effect, which is a consequence of changes in population IQ test performance changing IQ test norms over time.

Adaptive behavior, or adaptive functioning, refers to the skills needed to live independently (or at the minimally acceptable level for age). To assess adaptive behavior, professionals compare the functional abilities of a child to those of other children of similar age. To measure adaptive behavior, professionals use structured interviews, with which they systematically elicit information about persons' functioning in the community from people who know them well. There are many adaptive behavior scales, and accurate assessment of the quality of someone's adaptive behavior requires clinical judgment as well. Certain skills are important to adaptive behavior, such as:

- Daily living skills, such as getting dressed, using the bathroom, and feeding oneself

- Communication skills, such as understanding what is said and being able to answer

- Social skills with peers, family members, spouses, adults, and others

There are no objectively definitive statistics about how many people have savant skills. The estimates range from "exceedingly rare" to one in ten people with autism having savant skills in varying degrees. A 2009 British study of 137 parents of autistic children found that 28% believe their children met the criteria for a savant skill, defined as a skill or power "at a level that would be unusual even for 'normal' people". As many as 50 cases of sudden or acquired savant syndrome have been reported.

Males with savant syndrome outnumber females by roughly 6:1, slightly higher than the sex ratio disparity for autism spectrum disorders of 4.3:1.

Borderline intellectual functioning, also called borderline mental disability, is a categorization of intelligence wherein a person has below average cognitive ability (generally an IQ of 70–85), but the deficit is not as severe as intellectual disability (below 70). It is sometimes called below average IQ (BAIQ). This is technically a cognitive impairment; however, this group may not be sufficiently mentally disabled to be eligible for specialized services. The DSM-IV-TR codes borderline intellectual functioning as V62.89.

During school years, individuals with borderline intellectual functioning are often "slow learners." Although a large percentage of this group fails to complete high school and can often achieve only a low socioeconomic status, most adults in this group blend in with the rest of the population.

This is an ill-defined disorder of uncertain nosological validity. The category is included here because of the evidence that children with moderate to severe intellectual disability (IQ below 35) who exhibit major problems in hyperactivity and inattention frequently show stereotyped behaviours; such children tend not to benefit from stimulant drugs (unlike those with an IQ in the normal range) and may exhibit a severe dysphoric reaction (sometimes with psychomotor retardation) when given stimulants; in adolescence the overactivity tends to be replaced by underactivity (a pattern that is not usual in hyperkinetic children with normal intelligence). It is also common for the syndrome to be associated with a variety of developmental delays, either specific or global. The extent to which the behavioural pattern is a function of low IQ or of organic brain damage is not known, neither is it clear whether the disorders in children with mild intellectual disability who show the hyperkinetic syndrome would be better classified here or under F90.- (Hyperkinetic disorders); at present they are included in F90-.

Diagnostic guidelines

Diagnosis depends on the combination of developmentally inappropriate severe overactivity, motor stereotypies, and moderate to severe intellectual disability; all three must be present for the diagnosis. If the diagnostic criteria for F84.0 (childhood autism), F84.1 (atypical autism) or F84.2 (Rett's syndrome) are met, that condition should be diagnosed instead.

There are a variety of medical conditions affecting cognitive ability. This is a broad concept encompassing various intellectual or cognitive deficits, including intellectual disability, deficits too mild to properly qualify as intellectual disability, various specific conditions (such as specific learning disability), and problems acquired later in life through acquired brain injuries or neurodegenerative diseases like dementia. These disabilities may appear at any age.

Diagnosing Jacobsen Syndrome can be difficult in some cases because it is a rare chromosomal disorder. There are a variety of tests that can be carried out like karyotype, cardiac echocardiogram, a renal sonogram, a platelet count, blood count, a brain imaging study. Genetic testing can be carried out for diagnosis. In which chromosomes are stained to give a barcode like appearance and studied under the microscope which reveals the broken and deleted genes. It can also be diagnosed early in the prenatal stage if there are any abnormalities seen in the ultrasound. A simple assessment of the symptoms can be done to diagnose the Syndrome. A thorough physical examination could be carried out to assess the symptoms.

Global developmental delay is an umbrella term used when children are significantly delayed in their cognitive and physical development. There is usually a more specific condition which causes this delay, such as Fragile X syndrome or other chromosonal abnormalities. However, it is sometimes difficult to identify this underlying condition.

Other terms associated with this condition are failure to thrive (which focuses on lack of weight gain and physical development), intellectual disability (which focuses on intellectual deficits and the changes they cause to development) and developmental disability (which can refer to both intellectual and physical disability altering development).

Savant syndrome is a condition in which a person demonstrates one or more profound and prodigious capacities or abilities far in excess of what would be considered normal, yet often also has significant deficits in other areas of brain processing.

People with savant syndrome may have neurodevelopmental disorders, notably autism spectrum disorders (in which case they are often referred to as autistic savants), or brain injuries. The most dramatic examples of savant syndrome occur in individuals who score very low on IQ tests, while demonstrating exceptional skills or brilliance in specific areas, such as rapid calculation (hypercalculia), art, memory, or musical ability. Although termed a syndrome, it is not recognized as a mental disorder nor as part of a mental disorder in medical manuals such as the ICD-10 or the DSM-5.

Another form of savant syndrome is acquired savant syndrome, in which a person acquires prodigious capabilities or skills following dementia, a head injury or concussion, epilepsy, or other brain disturbances. This syndrome is more rare, with a study by Darold Treffert in 2010 showing that in a registry of 319 known savants, only 32 had acquired savant syndrome.

Remediation includes both appropriate remedial instruction and classroom accommodations.

Intellectual disability, also known as "general learning disability", and previously known as "mental retardation" (a term now widely considered to be offensive), is a generalized disorder characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors that appears before adulthood. It has historically been defined as an Intelligence Quotient (IQ) score under 70, but the definition now includes both one component relating to mental functioning and one relating to individuals' functional skills in their environment, so IQ is not the only factor.

Intellectual disability must have appeared in the developmental period, not only as an adult. By contrast, people with cognitive impairment have, or previously had, normal IQ, but now show confusion, forgetfulness and difficulty concentrating; cognitive impairment is typical of brain injuries, side effects from medications, and dementia. Many of these disabilities have an effect on memory, which refers to the ability to recall what has been learned over time. Typically memory is moved from sensory memory to working memory then finally into long term memory. People with cognitive disabilities typically will have have trouble with one of these types of memory.

Overactive disorder associated with mental retardation and stereotyped movements is a pervasive developmental disorder (PDD) listed in Chapter V(F) of the tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10); its diagnostic code is F84.4.

Intellectual disability in children can be caused by genetic or environmental factors. The individual could have a natural brain malformation or pre or postnatal damage done to the brain caused by drowning or a traumatic brain injury, for example. Nearly 30 to 50% of individuals with intellectual disability will never know the cause of their diagnosis even after thorough investigation.

Prenatal causes of intellectual disability include:

- Congenital infections such as cytomegalovirus, toxoplasmosis, herpes, syphilis, rubella and human immunodeficiency virus

- Prolonged maternal fever in the first trimester

- Exposure to anticonvulsants or alcohol

- Untreated maternal phenylketonuria (PKU)

- Complications of prematurity, especially in extremely low-birth-weight infants

- Postnatal exposure to lead

Single-gene disorders that result in intellectual disability include:

- Fragile X syndrome

- Neurofibromatosis

- Tuberous sclerosis

- Noonan's syndrome

- Cornelia de Lange's syndrome

These single-gene disorders are usually associated with atypical physical characteristics.

About 1/4 of individuals with intellectual disability have a detectable chromosomal abnormality. Others may have small amounts of deletion or duplication of chromosomes, which may go unnoticed and therefore, undetermined.

There has been no treatment discovered for Jacobsen Syndrome until now but the Symptoms can be treated. 56% of children with Jacobsen Syndrome have congenital heart problems to keep them in check a baseline evaluation can be made by a paediatric cardiologist by carrying out an electrocardiogram or echocardiogram. Any problems that are found can be treated then.

Almost all affected children are born with a bleeding disorder, monthly CBT may help ease the problem. Consecutively Platelet transfusion and ddAVP can be carried out. Medication that interferes with platelet count should be avoided and oral contraceptive therapy may be considered for women with heavy bleeding during menses.

Children affected with Jacobsen Syndrome have severe to Moderate intellectual disabilities and cognitive impairment. An evaluation by a neuropsychologist or a behaviour specialist like a Psychiatrist or Psychologist can be performed, including brain imaging like MRI or ERP. Then as deemed appropriate intervention programs can be carried through. Music therapy is very beneficial for language development. According to the age, befitting vision and hearing test can aid in fixing problems related cognition. For problems related to behaviour like ADHD, medication or therapy would be required but a combination of both is more effective. An ophthalmologist should be consulted to treat the eye defects. Play and interactive games encourage the child to speak. Habilitiation in children should begin at an early age. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development. The entire family is supported to help the affected children and their families adjust better.

Even though clinical diagnostic criteria have not been 100 percent defined for genitopatellar syndrome, the researchers stated that the certain physical features could relate to KAT6B mutation and result in the molecular genetic testing. The researchers stated that the Individuals with two major features or one major feature and two minor features are likely to have a KAT6B mutation.

To diagnose the Genitopatellar Syndrome, there are multiple ways to evaluate.

Medical genetics consultation

- Evaluation by developmental specialist

- Feeding evaluation

- Baseline hearing evaluation

- Thyroid function tests

- Evaluation of males for cryptorchidism

- Orthopedic evaluation if contractures are present or feet/ankles are malpositioned

- Hip radiographs to evaluate for femoral head dislocation

- Renal ultrasound examination for hydronephrosis and cysts

- Echocardiogram for congenital heart defects

- Evaluation for laryngomalacia if respiratory issues are present

- Evaluation by gastroenterologist as needed, particularly if bowel malrotation is suspected

Hyperlexic children are characterized by word-reading ability well above what would be expected given their ages and IQs. Hyperlexia can be viewed as a superability in which word recognition ability goes far above expected levels of skill. However, in spite of few problems with decoding, comprehension is poor. Some hyperlexics also have trouble understanding speech. Most or perhaps all children with hyperlexia lie on the autism spectrum. Between 5–10% of autistic children have been estimated to be hyperlexic.

There is no treatment for intellectual disability but there are plenty of services offered for those diagnosed to help them function in their everyday lives. Professionals will sometimes work out an Individualized Family Service Plan (IFSP), which documents the child's needs, as well as the services that would best help them specifically. Speech, physical, and occupational therapy may be offered. Intellectually disabled children can be placed in special education classes through the public school system, where the school and parents will map out an Individualized Education Program (IEP). This program lays out all of the services and classes the child will become involved in during their time in school.

The diagnosis of rhizomelic chondrodysplasia punctate can be based on genetic testing, as well as radiography results, plus an examination(physical) of the individual.

The syndrome primarily affects young males. Preliminary studies suggest that prevalence may be 1.8 per 10,000 live male births. 50% of those affected do not live beyond 25 years of age, with deaths attributed to the impaired immune function.

Micro syndrome also known as WARBM, and Warburg–Sjo–Fledelius syndrome, is a rare autosomal recessive genetic disorder characterized by microcephaly, microcornea, congenital cataract, intellectual or developmental disability, optic atrophy, and hypogenitalism.

There is no specific treatment for micro syndrome, but there are ways to help the disorders, and illnesses that come with it. Many individuals with Micro Syndrome need permanent assistance from their disorders and inabilities to move and support themselves. Seizures are not uncommon and patients should get therapy to help control them, and many patients also require wheelchairs to move, so an assistant would be needed at all times.

Those with micro syndrome are born appearing normal. At the age of one, mental and physical delays become apparent, along with some limb spasms. By the age of eight micro syndrome has already set in, and the patient will have joint contractures, Ocular Atrophy will become noticeable, the patient will most likely lose ability to walk, speak, and sometimes move at all.

The diagnosis of Wilson–Turner syndrome is based upon a clinical evaluation, a detailed patient history, and identification of characteristic features. Molecular genetic testing for mutations in the HDAC8 gene is now available to confirm the diagnosis.

13q deletion syndrome can only be definitively diagnosed by genetic analysis, which can be done prenatally or after birth. Increased nuchal translucency in a first-trimester ultrasound may indicate the presence of 13q deletion.

Though the outcome for individuals with either form of the tetrasomy is highly variable, mosaic individuals consistently experience a more favourable outcome than those with the non-mosaic form. Some affected infants die shortly after birth, particularly those with the non-mosaic tetrasomy. Many patients do not survive to reproductive age, while others are able to function relatively normally in a school or workplace setting. Early diagnosis and intervention has been shown to have a strong positive influence on the prognosis.

The test is particularly indicated in children who have had cluster seizures in series. It is also recommended for patients who are diagnosed GEFS+ and when the seizures are associated with fever, infection, experienced regression, delayed cognitive growth or behavioral problems. The test is typically ordered by neurologists. The diagnostic test can be done by drawing blood or saliva of the patient and their immediate family. It is analyzed in laboratories that specialize in genetic testing. Genetic testing can aid in a firmer diagnosis and understanding of the disorder, may aid in identifying the optimal treatment plan and if positive, testing of the parents can determine if they are carriers. (See Genetic Counseling)