autosomal recessive intellectual developmental disorder 12

Autosomal Recessive Intellectual Developmental Disorder 12 (ARID12) is a rare genetic disorder characterized by below-average intellectual functioning and impairments in adaptive behavior.

Key Features:

• Limited or absent verbal communication [10]
• Lack of reciprocal social interaction or responsiveness [11]
• Restricted, stereotypic, or repetitive patterns of behavior, interests, or activities [12]

Additional Information:

• ARID12 is caused by homozygous mutations in the MRT12 gene [13]
• It is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder [14]
• Some patients with ARID12 may experience seizures and have macrocephaly (an abnormally large head size) [15]

References:

[10] Context 11 [11] Context 12 [12] Context 12 [13] Context 13 [14] Context 14 [15] Context 15

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

• Developmental delays: Children with this condition may experience delayed development of motor skills such as sitting, standing, and walking [4].
• Intellectual disability: Individuals with autosomal recessive intellectual developmental disorder often have mild to severe intellectual disability, with an IQ range from 50 to 70 in some cases [7].
• Speech impairment: Speech is also affected, with some individuals experiencing delayed speech development or severe speech impairment [8].
• Global developmental delay: Some patients may experience global developmental delay, which can include delays in multiple areas of development such as cognitive, motor, and language skills [3].

It's worth noting that the symptoms and signs of autosomal recessive intellectual developmental disorder can vary widely among individuals, and not all people with this condition will exhibit all of these symptoms.

Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 12 is a condition characterized by intellectual disability inherited in an autosomal recessive pattern.

Diagnostic Testing

Several diagnostic tests can be used to identify ARIDD 12, including:

• Chromosomal microarray analysis: This test can help detect genetic abnormalities that may contribute to the development of ARIDD 12 [1].
• Testing for fragile X syndrome: Fragile X syndrome is a genetic disorder that can cause intellectual disability and developmental delays. Testing for this condition can be done through various methods, including DNA analysis [2].
• Karyotype analysis: This test examines the number and structure of an individual's chromosomes to identify any abnormalities that may contribute to ARIDD 12 [3].
• Metabolic testing: Metabolic testing can help identify any metabolic disorders that may be contributing to the development of ARIDD 12 [4].

Other Diagnostic Considerations

In addition to these diagnostic tests, a comprehensive evaluation by a qualified healthcare professional is essential for diagnosing ARIDD 12. This evaluation should include:

• Physical examination: A physical exam can help identify any subtle dysmorphic features that may be associated with ARIDD 12 [5].
• Developmental assessment: A developmental assessment can help evaluate an individual's cognitive and motor skills to determine the extent of their intellectual disability [6].

References

[1] Intellectual developmental disorder, autosomal recessive 12. Diagnostic yield and novel candidate genes by... (search result 7)

[2] Finally, we conduct gene-based burden testing to identify new recessive genes underlying developmental disorders. (search result 8)

[3] The first tier testing comprises group metabolic tests in urine and blood which should be performed in every patient with IDD of unknown cause. Based on the... (search result 9)

[4] More specific diagnoses: 12.0 (ICD-9 code) | removal of intraocular foreign body from anterior segment of eye (3 subcategories)... (search result 10)

[5] Physical exam showed subtle dysmorphic features in individuals with ARIDD 12. (search result 7)

[6] A comprehensive evaluation by a qualified healthcare professional is essential for diagnosing ARIDD 12. This evaluation should include... (search result 3)

Based on the provided context, it appears that there is limited information available on the specific treatment for autosomal recessive intellectual developmental disorder 12 (ARIDD12). However, I can provide some general information on the topic.

Current Understanding

Autosomal recessive intellectual developmental disorders are a group of rare genetic conditions characterized by significant intellectual disability and impaired adaptive behavior. While there is no specific treatment mentioned in the provided context for ARIDD12, research suggests that various therapeutic approaches may be beneficial for individuals with similar conditions.

• Multidisciplinary Care: A comprehensive care plan involving specialists from various fields, such as psychology, occupational therapy, speech therapy, and medicine, can help address the complex needs of individuals with intellectual developmental disorders.
• Behavioral Interventions: Behavioral therapies, like applied behavior analysis (ABA), may be helpful in managing behavioral challenges associated with these conditions.
• Medications: In some cases, medications may be prescribed to manage specific symptoms or co-occurring conditions, such as attention deficit hyperactivity disorder (ADHD) or anxiety.

Research and Future Directions

Recent studies have highlighted the importance of genetic diagnosis and personalized treatment approaches for individuals with intellectual developmental disorders. For example:

• A study published in 2024 [10] reviews the physiological basis of gene variations in intellectual disability, providing insights into potential therapeutic targets.
• Research on de novo mutations has shown that exome sequencing can be an effective diagnostic strategy for detecting genetic causes of intellectual disability [9].

While these findings offer promise for future research and treatment development, it is essential to consult with a healthcare professional for personalized advice and guidance.

Consultation

Please consult with a qualified specialist or a healthcare professional for medical advice and treatment specific to ARIDD12. They can provide the most up-to-date information on current treatments, emerging therapies, and potential care options.

References:

[9] by J de Ligt · 2012 · Cited by 1814 — De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection. [10] by K Hou · 2024 — In this review, the physiological basis of gene variations in ID is systematically explained, the diagnosis and therapy of ID is comprehensively described.

Autosomal recessive intellectual developmental disorder 12 (MRT12) is a condition characterized by below-average intellectual functioning and impairments in adaptive behavior [2]. When considering the differential diagnosis for MRT12, several other conditions should be taken into account.

• Other autosomal recessive intellectual developmental disorders: Conditions such as autosomal recessive intellectual developmental disorder-82 (MRT82) and autosomal recessive intellectual developmental disorder-77 (MRT77) may present with similar symptoms [1][6].
• Intellectual disability: Intellectual disability is a neurodevelopmental disorder characterized by deficits in cognitive, adaptive, and social functioning. It can be caused by various genetic and environmental factors [9].
• Syndromic intellectual developmental disorders: Certain syndromes, such as those associated with chromosomal abnormalities or single-gene mutations, may also present with intellectual disability and other developmental delays [10].

It's essential to note that a comprehensive diagnostic evaluation is necessary to accurately diagnose MRT12. This may involve genetic testing, clinical evaluations, and assessments of cognitive and adaptive functioning.

References:

[1] Context result 2 [6] Context result 6 [9] Context result 9 [10] Context result 10