autosomal recessive intellectual developmental disorder 74

Based on the search results, it appears that there are several different types of autosomal recessive intellectual developmental disorders, each with its own unique characteristics.

According to search result [4], one type of autosomal recessive intellectual developmental disorder is characterized by impaired intellectual development, poor language skills, short stature, and other physical abnormalities. However, this does not seem to match the specific description of "autosomal recessive intellectual developmental disorder 74".

Search result [8] mentions a different type of autosomal recessive intellectual developmental disorder-73 (MRT73), which is characterized by global developmental delay with hypotonia and mildly delayed walking. While this is close, it does not specifically mention disorder 74.

Unfortunately, I couldn't find any specific information on the description of autosomal recessive intellectual developmental disorder 74 in the search results provided. It's possible that this is a rare or lesser-known condition, or that the search results did not provide enough relevant information.

However, based on the general characteristics of autosomal recessive intellectual developmental disorders mentioned in the search results, it appears that these conditions are typically characterized by:

• Impaired intellectual development
• Poor language skills
• Global developmental delay
• Physical abnormalities such as short stature or hypotonia

It's worth noting that each type of autosomal recessive intellectual developmental disorder may have its own unique characteristics, and more specific information would be needed to provide a detailed description of disorder 74.

References: [4] - Impaired intellectual development, poor language skills, short stature, ... [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 74 (MRT74):

• Impaired intellectual development [8]
• Absent speech [2]
• Poor sleep [2]

Additionally, some patients may experience:

• Macrocephaly with frontal bossing [1]
• High levels of anxiety [1]
• Seizures [3]

It's worth noting that the severity and presentation of these symptoms can vary among individuals.

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

• Genetic testing: This can include tests such as chromosomal microarray analysis (CMA) [3], which is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Genetic testing can also involve analyzing specific genes, such as ST3GAL3 [2].
• Chromosomal microarray analysis (CMA): This is a non-invasive test that examines the number and structure of an individual's chromosomes. CMA can identify genetic imbalances that may contribute to intellectual developmental disorders.
• Karyotype analysis: This involves examining the chromosomes under a microscope to look for any abnormalities, such as deletions or duplications [7].
• Metabolic testing: This type of testing can help identify metabolic disorders that may be contributing to intellectual developmental disorder 74.

It's worth noting that genetic testing is not always necessary and should be guided by clinical judgment. A consensus statement suggests that chromosomal microarray analysis (CMA) is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies [3].

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. [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 are limited resources available for the treatment of autosomal recessive intellectual developmental disorder 74 (MRT74). However, I can provide some general information on the topic.

Current Research and Therapies

Research suggests that genetic therapies may hold promise in treating diseases caused by defective or missing genes. [7] This approach involves using viral vectors or nanoparticles to deliver healthy copies of the gene to cells, thereby correcting the underlying genetic defect.

Gene Therapy and Gene Editing

Gene therapy and gene editing technologies, such as CRISPR/Cas9, have shown potential in treating various genetic disorders. These approaches aim to correct the underlying genetic mutation responsible for the disease. However, more research is needed to explore their efficacy and safety in treating MRT74 specifically.

Other Therapeutic Approaches

While there are no specific treatments mentioned in the provided context for autosomal recessive intellectual developmental disorder 74, other therapeutic approaches may be considered on a case-by-case basis. These might include:

• Behavioral therapies: Targeted interventions to address adaptive behavior impairments and improve quality of life.
• Supportive care: Comprehensive care plans that focus on managing symptoms, preventing complications, and enhancing overall well-being.

Important Considerations

It is essential to note that the treatment landscape for MRT74 is likely to be evolving. As research progresses, new therapeutic options may become available. Patients and families should consult with healthcare professionals to discuss the most up-to-date information and explore potential treatment pathways.

References:

• [7] Hou K (2024) Genetic therapies: A promising approach in treating genetic diseases.
• [9] Autosomal recessive intellectual developmental disorder-41 (MRT41) is characterized by macrocephaly and global developmental delay. Some patients have seizures...

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, ARIDs are relatively rare and account for less than 12% of cases of intellectual disabilities [7]. When making a differential diagnosis, it's essential to consider various genetic disorders, including metabolic disorders, ciliopathies (such as Joubert syndrome, Bardet–Biedl syndrome), and others [8].

In addition, the absence of a positive family history can be indicative of an autosomal recessive disorder [11]. However, this does not rule out other conditions that may also present with intellectual disability.

The clinical work-up for ARID typically involves basic clinical diagnostic tests, followed by a differential diagnosis when patients fulfill certain criteria [9]. It's also essential to consider the phenotypic spectrum of ACTL6B-related disorders, which can include both autosomal recessive and autosomal dominant neurodevelopmental disorders [13].

When evaluating intellectual developmental disorders without other distinctive findings, it's recommended to consider all possible causes, including ARID. This is particularly relevant for conditions like TRIO-NDD, where the features may not be sufficient to diagnose on their own [15].

In summary, the differential diagnosis of autosomal recessive intellectual developmental disorder requires a comprehensive evaluation of various genetic and metabolic disorders, as well as consideration of other conditions that may present with similar symptoms.

Citations: [7] - The autosomal recessive inheritance of intellectual disability is relatively rare and accounts for <12% of cases of intellectual disabilities. [8] - Some ARIDs are classified to well-described syndromes such as ciliopathies (Joubert syndrome, Bardet–Biedl syndrome, and others), metabolic disorders, ... [9] - differential diagnosis (e. g., Cohen syndrome), after having basic clinical diagnostic tests, there is no justification to run exhaustive ... [11] - Family history has not only been helpful in the gene discovery of X-linked and autosomal recessive disorders. The absence of a positive family history is indicative as well as it has long been ... [13] - This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B -related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. [15] - Because these features are not sufficient to diagnose TRIO-NDD, all intellectual developmental disorders without other distinctive findings should be considered in the differential diagnosis.