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autosomal recessive intellectual developmental disorder 77
Description
Autosomal Recessive Intellectual Developmental Disorder 77 (MRT77) is a nonsyndromic neurodevelopmental disorder characterized by global developmental delay.
- Global developmental delay refers to a significant lag in the development of cognitive, motor, and language skills compared to peers of the same age [1][2][3].
- The disorder is characterized by variably impaired cognitive development, which can range from mild to severe intellectual disability [4][5].
- Individuals with MRT77 may experience delays or difficulties in various areas, including speech, language, social interaction, and adaptive behavior [6].
It's worth noting that the description of MRT77 is based on the available medical literature and online resources, which provide a general overview of the condition. However, it's essential to consult with a qualified healthcare professional for an accurate diagnosis and personalized information about this disorder.
References:
- [1] Search result 5: Disease Ontology Definition
- [2] Search result 6: An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development
- [3] Search result 8: An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development
- [4] Search result 5: Disease Ontology Definition
- [5] Search result 6: An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development
- [6] Search result 8: An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development
Additional Characteristics
- Global developmental delay refers to a significant lag in the development of cognitive, motor, and language skills compared to peers of the same age.
- The disorder is characterized by variably impaired cognitive development, which can range from mild to severe intellectual disability.
- Individuals with MRT77 may experience delays or difficulties in various areas, including speech, language, social interaction, and adaptive behavior.
Signs and Symptoms
Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 77:
- Impaired intellectual development [1]
- Absent speech [2]
- Poor sleep [2]
- Macrocephaly (large head size) [3]
- Global developmental delay [3]
- Seizures [3]
Additionally, some patients with this condition may experience:
- Fifth finger clinodactyly (a curved or bent fifth finger) [1]
- Recurrent pneumonia (repeated lung infections) [1]
- Hepatosplenomegaly (enlargement of the liver and spleen) [1]
It's worth noting that these symptoms can vary in severity and may not be present in all individuals with autosomal recessive intellectual developmental disorder 77.
Additional Symptoms
- Absent speech
- Global developmental delay
- Seizures
- Poor sleep
- Impaired intellectual development
- Macrocephaly (large head size)
- Hepatosplenomegaly (enlargement of the liver and spleen)
- Fifth finger clinodactyly (a curved or bent fifth finger)
- Recurrent pneumonia (repeated lung infections)
Diagnostic Tests
Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 77, also known as Intellectual Disability Autosomal Recessive 74, is a rare genetic condition that affects cognitive and intellectual development. Diagnostic tests for ARIDD 77 are crucial for accurate diagnosis and management of the condition.
Diagnostic Tests:
- Genetic Testing: Genetic testing is the primary diagnostic tool for ARIDD 77. It involves analyzing DNA samples to identify mutations in specific genes, such as ST3GAL3 (1p34.1) [2]. This test can be performed using various techniques, including PCR (Polymerase Chain Reaction), sequencing, and microarray analysis.
- Chromosomal Microarray Analysis: Chromosomal microarray analysis is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, including ARIDD 77 [3].
- Karyotyping: Karyotyping involves analyzing the number and structure of chromosomes to identify genetic imbalances. While not as commonly used today, karyotyping was historically the standard first-tier test for detecting genetic imbalance in patients with GDD/ID (Genetic Developmental Disorder/Intellectual Disability) [6].
- Metabolic Testing: Metabolic testing may be performed to rule out other conditions that can cause intellectual disability. However, it is not a specific diagnostic test for ARIDD 77.
Guidelines and Recommendations:
- The Consensus statement on chromosomal microarray analysis as a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies should be considered when evaluating patients with suspected ARIDD 77 [3].
- Genetic testing, including sequencing and microarray analysis, is recommended for diagnosing ARIDD 77 [2].
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.
[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 ...
Note: The above information is based on the search results provided and may not be an exhaustive list of diagnostic tests or guidelines.
Additional Diagnostic Tests
- Metabolic Testing
- Genetic Testing
- Karyotyping
- Chromosomal Microarray Analysis
Treatment
Based on the provided context, it appears that there is limited information available on the specific topic of drug treatment for autosomal recessive intellectual developmental disorder 77 (ARIDD-77). 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 mention of drug treatment for ARIDD-77 in the provided context, it's essential to note that most autosomal recessive intellectual developmental disorders do not have a cure or specific treatment.
General Treatment Approaches
For individuals with intellectual disabilities, including those caused by genetic conditions like autosomal recessive intellectual developmental disorders, the primary focus is on providing supportive care and management of associated symptoms. This may include:
- Behavioral therapies: To address behavioral challenges and promote adaptive behavior.
- Speech and language therapy: To improve communication skills.
- Occupational therapy: To enhance daily living skills and independence.
- Physical therapy: To maintain physical function and mobility.
Gene-Specific Therapies
In some cases, gene-specific therapies may be explored for autosomal recessive intellectual developmental disorders. These therapies aim to address the underlying genetic cause of the condition by introducing or replacing a faulty gene with a healthy copy. However, this approach is still in its infancy, and more research is needed to determine its efficacy and safety.
Current Research
Research on gene-specific therapies for autosomal recessive intellectual developmental disorders is ongoing. For example, studies have explored the use of viral vectors or nanoparticles to deliver genes that can correct genetic mutations associated with these conditions [7].
Conclusion
While there is no specific information available on drug treatment for ARIDD-77 in the provided context, it's essential to note that most autosomal recessive intellectual developmental disorders do not have a cure or specific treatment. General supportive care and management of associated symptoms remain the primary focus. Gene-specific therapies are being explored, but more research is needed to determine their efficacy and safety.
References:
[7] Hou K. Genetic Therapies for Rare Diseases: A Review of Current Research and Future Directions. 2024.
Note: The above response is based on general information available in the provided context. If you have any specific questions or would like me to elaborate on a particular point, please feel free to ask!
Recommended Medications
- Physical therapy
- Occupational therapy
- Behavioral therapies
- Speech and language therapy
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis for autosomal recessive intellectual developmental disorder (ARID) involves considering various genetic and syndromic conditions that can present with similar symptoms.
According to the search results, ARID contributes to about 10% of cases in an outbred population [1]. The syndrome has a broad differential diagnosis, including syndromes with primary microcephaly and absence/delay of speech [8].
Some autosomal dominant disorders that should be considered in the differential diagnosis include:
- Angelman syndrome: characterized by severe intellectual and developmental disabilities [6]
- Achondroplasia: a genetic disorder causing short stature and other physical abnormalities
- Amelogenesis imperfecta: a condition affecting tooth development
- Marfan syndrome: a genetic disorder affecting the connective tissue
Other conditions that may be considered in the differential diagnosis include:
- Autosomal dominant intellectual developmental disorders, such as those caused by mutations in the BCL11A gene [13]
- X-linked disorders, which are associated with substantially higher recurrence risks [14]
It's also important to consider nonsyndromic X-linked intellectual developmental disorder (NSID), which can be caused by mutations in various genes [15].
In addition, the differential diagnosis for ARID should include other autosomal recessive disorders, such as those listed in the OMIM Autosomal Dominant, Autosomal Recessive, and Nonsyndromic X-Linked Intellectual Developmental Disorder Phenotypic Series.
Overall, a comprehensive differential diagnosis for ARID requires considering a wide range of genetic and syndromic conditions that can present with similar symptoms.
References:
[1] Jamra, R. (2018). Autosomal recessive forms of intellectual disabilities (ARID) contribute to about 10% of cases in an outbred population. [6] Angelman syndrome: This is a neurogenetic disorder characterized by severe intellectual and developmental disabilities. [8] The autosomal recessive inheritance of intellectual disability is relatively rare and accounts for <12% of cases of intellectual disabilities (4) [13] Pathogenic variants in BCL11A are associated with an autosomal dominant intellectual developmental disorder with dysmorphic features and asymptomatic persistence of foetal haemoglobin, referred to as Dias Logan syndrome (MIM 617101)11 [14] On the other hand, autosomal dominant, autosomal recessive, and X-linked disorders are associated with substantially higher recurrence risks. [15] All genes known to be associated with intellectual disability (see OMIM Autosomal Dominant, Autosomal Recessive, Nonsyndromic X-Linked, and Syndromic X-Linked Intellectual Developmental Disorder Phenotypic Series) should be included in the differential diagnosis of individuals with NSID.
Additional Differential Diagnoses
- Other autosomal recessive disorders
- Nonsyndromic X-linked intellectual developmental disorder (NSID)
- Autosomal dominant intellectual developmental disorders (BCL11A gene)
- amelogenesis imperfecta
- Marfan syndrome
- Angelman syndrome
- achondroplasia
- autosomal recessive intellectual developmental disorder 13
Additional Information
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- autosomal recessive intellectual developmental disorder 77
- IAO_0000115
- An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36.
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- t361488
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.