autosomal recessive intellectual developmental disorder 57

Intellectual Developmental Disorder, Autosomal Recessive 57 (MRD57)

Intellectual developmental disorder, autosomal recessive 57 (MRD57) is a rare genetic disorder characterized by significantly below average general intellectual functioning and impairments in adaptive behavior [5]. It is caused by mutations in the MBOAT7 gene on chromosome 19q13 [8].

The disorder is associated with delayed psychomotor development, which means that affected individuals may experience delays in reaching developmental milestones such as sitting, crawling, or walking [6][7]. The severity and progression of the disorder can vary widely among affected individuals.

MRD57 is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carriers of the mutation may not show symptoms but can pass the mutation to their offspring [9].

The disorder was previously known as MRT57 and has also been referred to as TLK2-related neurodevelopmental disorder or intellectual developmental disorder, autosomal dominant 57 [9].

Based on the available information, here are the signs and symptoms associated with Autosomal Recessive Intellectual Developmental Disorder 57 (MRD57):

• Delayed psychomotor development: Most affected individuals have delayed psychomotor development apparent in infancy or early childhood [1].
• Language delay: Language delay is a common feature of MRD57, often becoming apparent in early childhood [1].
• Behavioral abnormalities: Behavioral abnormalities are also a characteristic feature of this disorder, which can manifest as autistic behavior, hyperactivity, or other behavioral issues [4][5].
• Hypotonia and feeding problems: Some individuals with MRD57 may experience hypotonia (low muscle tone) and feeding problems in infancy [1].
• Gastrointestinal issues: Gastrointestinal issues, such as constipation or diarrhea, have been reported in some cases of MRD57 [1].
• Dysmorphic facial features: Some individuals with this disorder may exhibit dysmorphic facial features, although the exact nature and frequency of these features are not well documented [1].

It's essential to note that the specific signs and symptoms can vary significantly from one affected individual to another. The severity and presentation of MRD57 can also differ among affected individuals.

References: [1] Reijnders et al., 2018 (summary) [4] Online resource describing clinical features [5] Clinical feature list

Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 57, also known as Intellectual Disability Autosomal Recessive 74, is a rare genetic condition that affects cognitive and intellectual development. Diagnostic tests for ARIDD 57 are crucial for accurate diagnosis and management of the condition.

Diagnostic Tests:

• Genetic Testing: Genetic testing is the primary diagnostic tool for ARIDD 57. It involves analyzing DNA samples to identify mutations in the responsible gene(s). [1][2]
• Chromosomal Microarray Analysis (CMA): CMA is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, including ARIDD 57. [3]
• Karyotyping: G-banded karyotyping has historically been the standard first-tier test for detecting genetic imbalance in patients with GDD/ID, including ARIDD 57. However, CMA is now considered a more sensitive and specific test. [4]

Other Diagnostic Considerations:

• Metabolic Testing: Metabolic testing may be necessary to rule out other conditions that can cause intellectual disability.
• Fragile X Syndrome Testing: Fragile X syndrome is another genetic condition that can cause intellectual disability, so testing for this condition may also be recommended.

It's essential to consult with a qualified healthcare professional or a genetic counselor to determine the most appropriate diagnostic tests and management plan for individuals suspected of having ARIDD 57.

Autosomal Recessive Intellectual Developmental Disorder 57 (MRT57) is a rare genetic disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during childhood.

Regarding drug treatment for MRT57, there are limited resources available. However, some studies suggest that certain medications may help alleviate symptoms of the disorder.

• Genetic therapies: Research has shown that genetic therapies can be effective in treating diseases caused by defective or missing genes. In the case of MRT57, gene delivery using viral vectors or nanoparticles could potentially introduce, repair, or replace the defective gene responsible for the disorder [7].
• Medications for symptoms management: While there are no specific medications approved for the treatment of MRT57, some studies suggest that certain medications may help manage symptoms associated with intellectual developmental disorders. These include antipsychotics, antidepressants, and stimulants [8].

It's essential to note that these findings are based on limited research and more studies are needed to fully understand the effectiveness of drug treatments for MRT57.

References:

[7] Hou K. Genetic therapies for rare diseases: A review of current developments. 2024. [8] Li H. Treatment of intellectual developmental disorders: A review of pharmacological interventions. 2024.

Autosomal recessive intellectual developmental disorder 57 (OMIM:617188) is a rare genetic condition characterized by intellectual disability, which can be challenging to diagnose due to its rarity and overlapping symptoms with other conditions. To approach the differential diagnosis of this condition, let's consider some key points:

• Genetic basis: Autosomal recessive intellectual developmental disorder 57 is caused by mutations in an unknown gene, making it difficult to identify specific genetic markers for diagnosis.
• Clinical presentation: The condition presents with intellectual disability, which can range from mild to severe. Other symptoms may include delayed speech and language development, learning disabilities, and behavioral problems.

Given the rarity of this condition and its overlapping symptoms with other conditions, a comprehensive diagnostic approach is essential. Here are some steps to consider:

• Metabolic evaluation: A metabolic evaluation should be performed to rule out treatable causes of intellectual disability, such as inborn errors of metabolism (e.g., [8]). This involves assessing various bodily functions, including glucose and amino acid metabolism.
• Genetic testing: Genetic testing for autosomal recessive conditions can help identify mutations in the responsible gene. However, this may not be feasible due to the unknown genetic basis of OMIM:617188.
• Neurodevelopmental evaluation: A thorough neurodevelopmental evaluation is necessary to assess cognitive and adaptive functioning, as well as behavioral and emotional status.
• Imaging studies: Imaging studies, such as MRI or CT scans, can help rule out structural brain abnormalities that may contribute to intellectual disability.

When considering the differential diagnosis of autosomal recessive intellectual developmental disorder 57, it's essential to keep in mind other conditions that present with similar symptoms. These include:

• Autosomal dominant intellectual developmental disorders: Conditions like tuberous sclerosis and neurofibromatosis can present with intellectual disability and may be considered in the differential diagnosis (e.g., [2]).
• X-linked intellectual developmental disorders: X-linked conditions, such as fragile X syndrome, can also present with intellectual disability and should be ruled out.
• Metabolic disorders: Metabolic disorders like phenylketonuria or maple syrup urine disease can cause intellectual disability and should be considered in the differential diagnosis (e.g., [8]).

In conclusion, the differential diagnosis of autosomal recessive intellectual developmental disorder 57 requires a comprehensive approach that includes metabolic evaluation, genetic testing, neurodevelopmental evaluation, and imaging studies. Other conditions with similar symptoms should also be ruled out to ensure accurate diagnosis and treatment.

References:

[1] by R Jamra · 2018 · Cited by 57 — Genetic causes of ID are highly heterogeneous, including large chromosomal abnormalities, submicroscopic copy number variants, and monogenic ...

[2] by M Ilyas · 2020 · Cited by 104 — Autosomal dominant ID is caused by heterozygous mutations in different reported genes and CNVs. Tuberous sclerosis, neurofibromatosis, and ...

[8] by CDM van Karnebeek · 2014 · Cited by 168 — The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital ...