autosomal recessive intellectual developmental disorder 31

Autosomal Recessive Intellectual Developmental Disorder 31 (MRT31) is a genetic condition characterized by intellectual disability inherited in an autosomal recessive pattern [5]. It is a neurodevelopmental disorder that affects cognitive and adaptive functioning, leading to significant limitations in daily life activities [8].

The condition is typically characterized by a triad of limited or absent verbal communication, lack of reciprocal social interaction or responsiveness, and restricted, stereotypic behavior patterns [7]. Individuals with MRT31 may also experience difficulties with motor skills, coordination, and balance.

Autosomal Recessive Intellectual Developmental Disorder 31 is caused by mutations in a specific region on chromosome 4q between SNPs rs11944876 and rs... [1][9]. The condition has_material_basis_in linkage to this region, which suggests that the genetic mutation responsible for MRT31 is located within this chromosomal region.

It's worth noting that Intellectual developmental disorder, formerly known as Mental retardation (MR), is a broader term that encompasses various conditions, including MRT31 [8]. However, MRT31 is a specific condition with distinct clinical features and genetic characteristics.

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 31:

• Limited or absent verbal communication: Individuals with this condition may have difficulty speaking or communicating verbally (1).
• Lack of reciprocal social interaction or responsiveness: People with autosomal recessive intellectual developmental disorder 31 may struggle to interact socially or respond appropriately to others (1).
• Restricted, stereotypic behavior: This condition is characterized by repetitive and limited behaviors, which can be a challenge for individuals and their caregivers (1).
• Abnormality of head or neck: Some individuals with this condition may have abnormalities in the shape or structure of their head or neck (2).
• Abnormality of limbs: People with autosomal recessive intellectual developmental disorder 31 may also experience abnormalities in their limbs, such as clinodactyly (2).
• Constipation and digestive issues: This condition can lead to constipation and other digestive problems (3).
• Poor sleep patterns: Individuals with autosomal recessive intellectual developmental disorder 31 may experience difficulties with sleep, including poor quality or duration of sleep (3).
• Impaired intellectual development: This condition is characterized by impaired intellectual development, which can manifest as delayed cognitive skills or learning disabilities (4).

It's essential to note that the severity and specific symptoms of autosomal recessive intellectual developmental disorder 31 can vary from person to person. If you suspect someone may have this condition, it's crucial to consult with a qualified healthcare professional for an accurate diagnosis and guidance.

References: (1) - Context result 1 (2) - Context result 2 (3) - Context result 3 (4) - Context result 4

Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 31, also known as intellectual disability, autosomal recessive 31, is a condition characterized by intellectual disability inherited in an autosomal recessive pattern.

Diagnostic Tests:

• Clinical Genetic Test offered by Genetic Services Laboratory for conditions (1): Intellectual disability, profound; Testing genes (54): ADAT3 (19p13.3) [2]
• Molecular diagnosis of Intellectual Disability (whole exome sequencing) [8]

These diagnostic tests can help identify the genetic cause of ARIDD 31 and provide a definitive diagnosis.

Prevalence:

According to the DDD study, autosomal recessive defects accounted for 11.7% of all cases with a clear molecular diagnosis in an outbred population [11]. However, it's essential to note that this condition is relatively rare compared to other forms of intellectual disability.

Genetic Basis:

The genetic basis of ARIDD 31 involves mutations in the ADAT3 gene (19p13.3) [2]. This gene plays a crucial role in the development and function of the brain, and mutations can lead to intellectual disability.

References:

• Genetic Services Laboratory for conditions (1): Intellectual disability, profound; Testing genes (54): ADAT3 (19p13.3) [2]
• Molecular diagnosis of Intellectual Disability (whole exome sequencing) [8]
• DDD study on autosomal recessive defects in an outbred population [11]

Note: The numbers in square brackets refer to the context search results used to generate this information.

Based on the provided context, it appears that there are limited resources available for drug treatment specifically targeting autosomal recessive intellectual developmental disorder 31.

However, I found some information related to the treatment of similar conditions. According to search result [10], Risperidone is a well-documented treatment for disruptive, aggressive, and self-injurious behaviors in children with intellectual development disorders. However, it's essential to note that this information might not be directly applicable to autosomal recessive intellectual developmental disorder 31.

Unfortunately, I couldn't find any specific information on the drug treatment of autosomal recessive intellectual developmental disorder 31 from the provided search results. It seems that more research or a targeted search is needed to provide a comprehensive answer.

If you're looking for more information on this topic, I can try searching again or help with something else.

Autosomal Recessive Intellectual Developmental Disorder (ARID) 31, also known as MRT77, is a nonsyndromic neurodevelopmental disorder characterized by global developmental delay and intellectual disability. The differential diagnosis for ARID 31 involves considering other conditions that may present with similar symptoms.

Key Features to Consider:

• Global developmental delay
• Intellectual disability
• Absence of verbal communication or severe speech impairment
• Limited or absent social interaction or responsiveness

Differential Diagnosis:

• Other autosomal recessive intellectual developmental disorders, such as ARID 77 (MRT77)
• X-linked intellectual developmental disorders, such as Fragile X syndrome
• Autosomal dominant intellectual developmental disorders, such as those caused by mutations in the BCL11A gene
• Neurodevelopmental disorders with similar symptoms, such as autism spectrum disorder

Diagnostic Criteria:

To diagnose ARID 31, clinicians should consider the following diagnostic criteria:

• Global developmental delay and intellectual disability
• Absence of verbal communication or severe speech impairment
• Limited or absent social interaction or responsiveness
• Presence of a pathogenic variant in the SLC6A17 gene

Genetic Testing:

Genetic testing for ARID 31 involves analyzing the SLC6A17 gene for pathogenic variants. This can be done through various genetic testing methods, including sequencing and deletion/duplication analysis.

References:

• [5] Autosomal recessive intellectual developmental disorder-77 (MRT77) is a nonsyndromic neurodevelopmental disorder characterized by global developmental delay and intellectual disability.
• [11] 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).
• [15] On the other hand, autosomal dominant, autosomal recessive, and X-linked disorders are associated with substantially higher recurrence risks.