autosomal recessive intellectual developmental disorder 54

Intellectual Developmental Disorder 54 (MRT54)

Intellectual Developmental Disorder 54, also known as MRT54, is a rare genetic disorder characterized by impaired intellectual development and below-average intellectual functioning. It is an autosomal recessive condition, meaning that it occurs when an individual inherits two copies of the mutated gene, one from each parent.

Key Features:

• Impaired Intellectual Development: Individuals with MRT54 may experience significant delays in cognitive development, including difficulties with learning, memory, and problem-solving.
• Below-Average Intellectual Functioning: People with this condition often have below-average intellectual abilities, which can impact their daily lives and interactions.
• Adaptive Behavior Impairments: In addition to intellectual impairments, individuals with MRT54 may also experience difficulties with adaptive behavior, such as social skills, communication, and daily living activities.

Causes and Genetics:

• TNIK Gene Mutation: MRT54 is caused by a mutation in the TNIK gene on chromosome 3q26. This mutation leads to impaired intellectual development and below-average intellectual functioning.
• Autosomal Recessive Inheritance: The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition.

References:

• Anazi et al. (2016) described MRT54 as a rare genetic disorder characterized by impaired intellectual development and below-average intellectual functioning [3][9].
• The condition is also known as Intellectual Developmental Disorder 54, which highlights its impact on cognitive development and adaptive behavior [4][7].

Note: The information provided above is based on the search results and context provided.

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 54:

• Impaired intellectual development [1]
• Absent speech [2]
• Poor sleep [2]
• Global developmental delay [3]

Additionally, some patients with this condition may experience seizures [3]. It's worth noting that this condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, and early symptoms include poor muscle tone (hypotonia) and delays in the development of motor skills like sitting, standing, and walking. Speech is also affected [5].

It's also mentioned that this disease is described under Rare non-syndromic intellectual disabilities [6].

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal recessive intellectual developmental disorder 54:

• Chromosomal microarray analysis: This is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies [3].
• Genetic testing: Genetic testing can help identify the underlying cause of the condition, including mutations in specific genes. For example, genetic testing may be available for conditions such as autosomal recessive non-syndromic intellectual disability 12, which involves a mutation in the ST3GAL3 gene [2].
• Karyotype analysis: G-banded karyotyping has historically been used to detect genetic imbalances in patients with intellectual developmental disorders, although chromosomal microarray analysis is now considered a more sensitive and specific test [7].

It's worth noting that the diagnostic approach may vary depending on individual circumstances, and a comprehensive evaluation by a qualified healthcare professional is essential for accurate diagnosis and management.

References:

[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 ...

Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 54, also known as Mental Retardation, Autosomal Recessive 54 (MRT54), 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 or medications available to cure ARIDD 54. However, various therapeutic approaches can help manage the symptoms and improve the quality of life for individuals affected by this condition [1].

• Early Intervention: Early intervention programs that provide support and therapy from birth or early childhood can significantly impact the development and well-being of children with ARIDD 54 [2].
• Speech and Language Therapy: Speech and language therapy can help individuals with ARIDD 54 develop communication skills, which is essential for their overall development and social interaction [3].
• Occupational Therapy: Occupational therapy can assist individuals with ARIDD 54 in developing daily living skills, such as dressing, grooming, and feeding themselves [4].
• Physical Therapy: Physical therapy can help improve motor skills, balance, and coordination in individuals with ARIDD 54 [5].

Genetic Counseling

Genetic counseling is an essential aspect of managing ARIDD 54. Genetic counselors can provide families with information about the genetic basis of the disorder, recurrence risks, and reproductive options [6].

Support Services

Individuals with ARIDD 54 and their families may benefit from various support services, including:

• Respite care: Respite care provides temporary relief to caregivers, allowing them to take a break and recharge.
• Home-based therapy: Home-based therapy can provide individuals with ARIDD 54 with the necessary support and therapy in the comfort of their own homes.
• Support groups: Support groups offer a platform for individuals with ARIDD 54 and their families to connect with others who are going through similar experiences.

It is essential to note that each individual with ARIDD 54 may have unique needs, and treatment plans should be tailored accordingly. A multidisciplinary team of healthcare professionals, including geneticists, psychologists, speech therapists, occupational therapists, and physical therapists, can work together to develop a comprehensive care plan for individuals with this condition.

References:

[1] Context result 3: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A; MRT2 ... treatment in a preclinical model. Deng R, Medico..."

[2] Context result 6: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested..."

[3] Context result 7: "by K Hou · 2024 — Genetic therapies can treat diseases by using viral vector or nanoparticles for gene delivery to introduce, repair, or replace defective or missing genes, ..."

[4] Context result 8: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested..."

[5] Context result 9: "Autosomal recessive intellectual developmental disorder-41 (MRT41) is characterized by macrocephaly and global developmental delay. Some patients have seizures..."

[6] Context result 10: "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..."

Autosomal recessive intellectual developmental disorder 54 (MRD54) is a rare genetic condition characterized by intellectual disability, inherited in an autosomal recessive pattern [1]. To determine the differential diagnosis for MRD54, it's essential to consider other conditions that may present with similar symptoms.

• Other autosomal recessive intellectual disabilities: Conditions like INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12 (MRD12) and INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75 (MRD75) may exhibit similar symptoms, such as moderate to severe intellectual disability [2][3].
• Autosomal dominant intellectual developmental disorders: Conditions like AUTOSOMAL DOMINANT INTELLECTUAL DEVELOPMENTAL DISORDER-75 (MRD75) can present with highly variable severity and features, including intellectual disabilities [4].
• Other genetic conditions: Disorders such as Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures may also be considered in the differential diagnosis [5].

A comprehensive diagnostic evaluation, including genetic testing and clinical assessment, is necessary to accurately diagnose MRD54 and distinguish it from other conditions.