autosomal recessive intellectual developmental disorder 24

Autosomal Recessive Intellectual Developmental Disorder 24 (MRT24) is a genetic condition characterized by a specific set of symptoms.

Key Features:

• Limited or absent verbal communication [1]
• Lack of reciprocal social interaction or responsiveness [2][4]
• Restricted, stereotypic behavior patterns [2][4]

These symptoms form a triad that is commonly associated with MRT24. The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the disorder.

Other Relevant Information:

• Autosomal recessive intellectual developmental disorders are a group of conditions characterized by intellectual disability and are inherited in an autosomal recessive pattern [5]
• MRT24 is caused by a homozygous mutation in the TAF2 gene on chromosome 8q24 [9]

Overall, Autosomal Recessive Intellectual Developmental Disorder 24 (MRT24) is a genetic condition that affects verbal communication, social interaction, and behavior patterns. It is inherited in an autosomal recessive pattern and is caused by a specific mutation in the TAF2 gene.

References: [1] - Context result 2 [2] - Context result 4 [4] - Context result 4 [5] - Context result 7 [9] - Context result 9

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 24:

• Impaired intellectual development: This condition is characterized by impaired intellectual development, which can manifest as delayed or absent speech, poor sleep, and other cognitive difficulties [2].
• Unique personality characteristics: Individuals with this condition may exhibit unique personality characteristics, although the specific traits are not specified in the provided context [4].
• Mild to moderate intellectual disability or learning problems: This condition is associated with mild to moderate intellectual disability or learning problems, which can impact an individual's ability to learn and adapt [4].
• Early symptoms include poor muscle tone (hypotonia) and delays in motor skills development: Early signs of this condition may include poor muscle tone (hypotonia) and delays in the development of motor skills such as sitting, standing, and walking [5].

It is essential to consult a medical professional for an accurate diagnosis and comprehensive information on this condition.

References:

[2] Context 2 [4] Context 4 [5] Context 5

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal recessive intellectual developmental disorder 74:

• Genetic testing: This is a crucial step in diagnosing autosomal recessive intellectual developmental disorders. Genetic tests can identify mutations in specific genes associated with these conditions (2).
• Chromosomal microarray analysis: This test is recommended as a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, including intellectual developmental disorders (3).
• Karyotype analysis: Historically, G-banded karyotyping has been the standard first-tier test for detecting genetic imbalances in patients with intellectual developmental disorders (6).
• Metabolic testing: This type of testing may be necessary to rule out metabolic disorders that can cause intellectual developmental disorders (7).

It's essential to note that the specific diagnostic tests used may vary depending on individual circumstances and the suspected underlying cause of the condition.

References: [2] - Genetic test offered by Intergen for conditions (1): Intellectual disability, autosomal recessive 12; Testing genes (1): ST3GAL3 (1p34.1); ... [3] - Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [6] - Sep 1, 2014 — G-banded karyotyping historically has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID for more than ... [7] - by P Pivalizza · Cited by 16 — - Rationale for genetic testing · - Chromosomal microarray analysis · - Testing for fragile X syndrome · - Karyotype analysis · - Metabolic testing ...

Based on the provided context, it appears that there is limited information available on the specific drug treatment for autosomal recessive intellectual developmental disorder (ID) also known as autosomal recessive non-syndromic intellectual disability.

However, I can provide some general information on the topic. According to search result [10], drugs.com provides accurate and independent information on more than 24,000 prescription drugs, over-the-counter medications, vitamins, and supplements. However, it does not specifically mention drug treatment for autosomal recessive ID.

Search result [5] mentions that AMFR dysfunction causes autosomal recessive spastic paraplegia in humans, which is amenable to statin treatment in a preclinical model. However, this information is not directly related to the treatment of autosomal recessive intellectual developmental disorder.

It's worth noting that search results [3], [4] and [6] mention consulting with a healthcare professional for medical advice and treatment, but do not provide specific information on drug treatment for autosomal recessive ID.

In general, the treatment for autosomal recessive intellectual developmental disorders often involves a multidisciplinary approach, including speech therapy, occupational therapy, physical therapy, and educational support. However, specific drug treatments may vary depending on the individual case and the underlying genetic cause of the disorder.

If you are looking for information on drug treatment for autosomal recessive ID, I would recommend consulting with a healthcare professional or a specialist in the field of intellectual developmental disorders. They can provide more detailed and accurate information based on the latest research and clinical guidelines.

References: [10] Drugs.com [5] Deng R, Medico et al. [3], [4] and [6] Search results

The differential diagnosis for autosomal recessive intellectual developmental disorder (ARID) involves a comprehensive evaluation to rule out other conditions that may present with similar symptoms.

According to the search results, ARID is characterized by intellectual disability inherited in an autosomal recessive pattern [4]. To make a differential diagnosis, clinicians consider various factors, including:

• Family history: A positive family history of consanguinity or a known genetic disorder can increase the likelihood of ARID [13].
• Clinical presentation: Symptoms such as global developmental delay, speech impairment, and behavioral problems may be present in individuals with ARID [6].
• Genetic testing: Molecular diagnosis is essential to confirm the presence of pathogenic variants in genes associated with ARID, such as SLC6A17 [3].

Other conditions that may need to be ruled out in the differential diagnosis for ARID include:

• Autosomal dominant intellectual developmental disorder (ADIDD): This condition presents with intellectual disability inherited in an autosomal dominant pattern and may share similar symptoms with ARID [7].
• Microcephaly: A reduction in brain volume can lead to intellectual and/or motor disabilities, which may be confused with ARID [9].

A thorough clinical work-up, including genetic testing and evaluation of family history, is essential to make a differential diagnosis for ARID.