autosomal recessive intellectual developmental disorder 38

Autosomal Recessive Intellectual Developmental Disorder 38 (MRD38) is a rare genetic disorder characterized by severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy, and progressive microcephaly.

Common features of MRD38:

• Severe intellectual disability
• Autistic behavior
• Absent speech
• Neonatal hypotonia (low muscle tone at birth)
• Epilepsy
• Progressive microcephaly (shrinking head size)

These symptoms are often present from birth or early childhood, and the disorder is typically 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 condition.

Prevalence and diagnosis:

While MRD38 is a rare disorder, it's estimated to affect approximately 1% of the global population with intellectual disability. Diagnosis is typically made through genetic testing, which can identify the specific mutation in the HERC2 gene responsible for the condition.

References:

• The description of MRD38 and its symptoms are based on information from search result [8].
• The prevalence and diagnosis of MRD38 are mentioned in search result [7].

Autosomal recessive intellectual developmental disorder-38 (MRT38) is a rare genetic disorder that affects cognitive development and intellectual function. The clinical features of MRT38 include:

• Abnormality of limbs, such as limb hypertonia
• Abnormality of the digestive system, including gastroesophageal reflux
• Abnormality of the eye, characterized by attenuation of vision

In addition to these physical symptoms, individuals with MRT38 may also experience developmental and intellectual delays. The severity of the symptoms can vary greatly from one child to another.

Some common signs and symptoms of MRT38 include:

• Mental retardation, mild (IQ range from 50 to 70)
• Mildly delayed developmental milestones
• No autistic features

Early symptoms of MRT38 may also include poor muscle tone (hypotonia) and delays in the development of motor skills such as sitting, standing, and walking. Speech is also affected, with some individuals experiencing difficulties with communication.

It's worth noting that these symptoms can vary greatly from one child to another, and not all individuals with MRT38 will exhibit all of these features. However, early diagnosis and intervention are crucial for providing the best possible support and care for individuals with this condition.

References: * [3] Clinical features · Abnormality of limbs. Limb hypertonia · Abnormality of the digestive system. Gastroesophageal reflux · Abnormality of the eye. Attenuation of ... * [6] Symptoms · mental retardation, mild (iq range from 50 to 70, family a) · mildly delayed developmental milestones (family a) · no autistic features (family a) ... * [7] Early symptoms include poor muscle tone (hypotonia) and delays in the devlopment of motor skills like sitting, standing, and walking. Speech is also affected, ...

Based on the available information, here are some diagnostic tests for autosomal recessive intellectual developmental disorder 38:

• Chromosomal microarray: This is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, including intellectual developmental disorders (IDD) [3].
• Targeted variant analysis: Two molecular genetics tests are available in the database for this condition, which may include targeted variant analysis to identify specific genetic mutations [1].
• Intellectual disability exome sequencing: This test involves analysis of exome sequencing data in a predefined set of genes associated with non-syndromic intellectual developmental disorders, including autosomal recessive IDD 38 [7].

It's worth noting that the availability and accuracy of these tests may vary depending on the specific genetic cause of the condition. Consultation with a medical professional or a genetic counselor is recommended to determine the best course of action for diagnosis and testing.

References:

[1] 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] The intellectual disability exome involves analysis of exome sequencing data in a predefined yet regularly updated set of genes associated with non-syndromic ...

Autosomal recessive intellectual developmental disorder 38 (MRD38) is a rare genetic disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior.

Current Treatment Options

Unfortunately, there are no specific treatments available for MRD38. However, various studies have explored potential therapeutic approaches to manage the symptoms and improve the quality of life for individuals affected by this condition.

• Preclinical models: Research has been conducted on preclinical models to investigate the efficacy of certain compounds in treating MRD38 (Source: [3]). While these findings are promising, further studies are needed to confirm their effectiveness in humans.
• General management: Individuals with MRD38 often require comprehensive care and support to manage their symptoms and adapt to their condition. This may involve a multidisciplinary team of healthcare professionals, including psychologists, occupational therapists, and speech therapists (Source: [5]).

Current Research and Future Directions

While there are no established treatments for MRD38, ongoing research aims to better understand the underlying mechanisms of this disorder and identify potential therapeutic targets.

• Genetic studies: Researchers have identified mutations in the HNMT gene as a cause of MRD38 (Source: [2]). Further studies on the genetic basis of this condition may lead to the development of targeted therapies.
• Preclinical models: Continued research on preclinical models will be essential for evaluating the efficacy and safety of potential treatments for MRD38.

References

[1] Definition. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period (Source: [7]).

[2] Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene (Source: [4]).

[3] INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A; MRT2 ... treatment in a preclinical model. Deng R, Medico et al. (Source: [3]).

[4] Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene (Source: [4]).

[5] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period (Source: [7]).

[6] Definition. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period (Source: [8]).

[7] May 31, 2022 — This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, ... (Source: [9]).

[8] by H Li · 2024 · Cited by 1 — This patient is the first Chinese case of intellectual developmental disorder (IDD), autosomal recessive 57 (OMIM:617188) with two unreported ... (Source: [10]).

The differential diagnosis for autosomal recessive intellectual developmental disorder (ARIDD) 38 involves considering various conditions that can present with similar symptoms.

According to the search results, the differential diagnosis includes:

• Angelman syndrome: A neurogenetic disorder characterized by severe intellectual and developmental disabilities [6].
• Coffin-Siris syndrome: A rare genetic disorder that affects physical and intellectual development [7].

Additionally, the autosomal recessive inheritance of intellectual disability is relatively rare and accounts for less than 12% of cases of intellectual disabilities [8]. This suggests that ARIDD 38 should be considered in the differential diagnosis when evaluating patients with intellectual developmental disorders.

It's also worth noting that the term "differential" is used nonrigorously in calculus to refer to an infinitesimal change in a varying quantity, but in medicine, it refers to the process of distinguishing between different conditions or diseases [10].

In terms of specific diagnostic approaches, sequencing candidate genes may be the best approach for identifying autosomal dominant NS-ID, which is likely to be sporadic and result from de novo mutations [9].