autosomal recessive intellectual developmental disorder 65

Based on the provided context, I will attempt to provide an informative response about the description of autosomal recessive intellectual developmental disorder 65.

Autosomal recessive intellectual developmental disorder 65 (MRT65) is a rare genetic condition characterized by global developmental delay. This means that individuals with MRT65 may experience delays in achieving milestones in various domains, including motor skills, speech and language, cognitive development, and social interaction.

Some common features associated with MRT65 include:

• Global developmental delay: Individuals with MRT65 may experience delays in achieving milestones in various domains.
• Intellectual disability: People with MRT65 often have intellectual disabilities, which can range from mild to severe.
• Speech and language difficulties: Individuals with MRT65 may experience speech and language impairments, such as delayed or absent verbal communication.
• Social interaction challenges: People with MRT65 may struggle with social interactions, including reciprocal social interaction or responsiveness.

It's essential to note that each individual with MRT65 may exhibit a unique set of symptoms and characteristics. A comprehensive diagnosis by a qualified healthcare professional is necessary for an accurate understanding of the condition.

References:

• [1] Characterized by global developmental delay affecting motor, speech, adaptive, and social development.
• [7] Global developmental delay affecting motor, speech, adaptive, and social development.
• [8] Global developmental delay with hypotonia and mildly delayed walking.

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 65:

• Impaired intellectual development [1]
• Absent speech [2]
• Poor sleep [2]
• Other less common features may include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly [1]

It's worth noting that the severity and presentation of this condition can vary from person to person. If you're looking for more information on this topic, I'd be happy to try and provide it.

References: [1] Context result 1 [2] Context result 2

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

• Genetic testing: Genetic tests can identify mutations in specific genes associated with autosomal recessive intellectual developmental disorders. For example, testing for mutations in the ST3GAL3 gene (1p34.1) may be recommended [2].
• Chromosomal microarray: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, which may include autosomal recessive intellectual developmental disorders [3].
• Exome sequencing: Exome sequencing involves analysis of exome sequencing data in a predefined set of genes associated with non-syndromic intellectual disability, including autosomal recessive intellectual developmental disorders [7].
• G-banded karyotyping: G-banded karyotyping has historically been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID, which may include autosomal recessive intellectual developmental disorders [8].

It's worth noting that any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually, and please contact directly for cost and CPT [4]. Additionally, diagnostic tests such as those mentioned in [5] and [9] may also be relevant.

References: [1] - Clinical resource with information about Intellectual developmental disorder autosomal recessive 74 and its clinical features, APC2, available genetic tests ... [2] - Clinical 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. [4] - Any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually. Please contact us directly for cost and CPT ... [5] - Autosomal recessive non-syndromic intellectual disability ... This disease is described under Rare non-syndromic intellectual disability ... Diagnostic tests (149) ... [7] - The intellectual disability exome involves analysis of exome sequencing data in a predefined yet regularly updated set of genes associated with non-syndromic ... [8] - 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 ... [9] - Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.

Based on the provided context, it appears that there are limited resources available for the specific treatment of autosomal recessive intellectual developmental disorder 65 (MRT65). However, I can provide some general information on the potential treatment options for similar conditions.

• Genetic therapies: Research suggests that genetic therapies, such as gene delivery using viral vectors or nanoparticles, may be a promising approach for treating certain genetic disorders, including those causing intellectual disability [7].
• Treatment of related conditions: While there is limited specific information available for MRT65, some studies have investigated the treatment of related conditions. For example, one study explored the use of gene therapy to treat a different autosomal recessive non-syndromic intellectual disability caused by mutations in the HNMT gene [2].
• General treatment approaches: In general, treatment for intellectual developmental disorders often involves a multidisciplinary approach, including speech and language therapy, occupational therapy, physical therapy, and educational support. Medications may also be prescribed to manage related symptoms such as attention deficit hyperactivity disorder (ADHD), anxiety, or seizures [9].

It's essential to note that these are general treatment approaches and not specific to MRT65. More research is needed to understand the optimal treatment strategies for this condition.

References: [2] - Context #2 [7] - Context #7 [9] - Context #9

The differential diagnosis for autosomal recessive intellectual developmental disorder (ARIDD) 65, also known as mental retardation, autosomal recessive 65, involves a range of conditions that can present with similar symptoms.

• Angelman syndrome: This is a neurogenetic disorder characterized by severe intellectual and developmental disabilities, often accompanied by speech delay or absence. [6]
• Primary microcephaly: A condition where the head circumference is significantly smaller than average, often associated with intellectual disability. [8]
• Speech delay or absence: Conditions such as cerebral palsy, hearing loss, or autism spectrum disorder can also present with similar symptoms.
• Other genetic disorders: Such as fragile X syndrome, Down syndrome, and Prader-Willi syndrome, which can also cause intellectual disability.

It's essential to note that a comprehensive diagnostic evaluation is necessary to rule out these conditions and accurately diagnose ARIDD 65. This may involve genetic testing, physical examination, developmental assessments, and other diagnostic tools.

References:

• [6] Angelman syndrome: A neurogenetic disorder characterized by severe intellectual and developmental disabilities.
• [8] Primary microcephaly: A condition where the head circumference is significantly smaller than average, often associated with intellectual disability.