autosomal recessive intellectual developmental disorder 45

Based on the provided context, it appears that there are multiple search results related to autosomal recessive intellectual developmental disorders.

Autosomal recessive intellectual developmental disorder-45 (MRT45) is a condition characterized by global developmental delay. This means that individuals with MRT45 may experience delays in achieving milestones in various domains of development, including motor skills, speech and language, cognitive abilities, and social interaction.

Some common features associated with MRT45 include:

• Global developmental delay: Individuals with MRT45 may experience delays in achieving milestones in various domains of development.
• Hypotonia: Some patients with MRT45 may have hypotonia, which is a condition characterized by low muscle tone.
• Mildly delayed walking: In some cases, individuals with MRT45 may experience mildly delayed walking.

It's essential to note that each individual with MRT45 may exhibit unique characteristics and symptoms. A comprehensive evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and to determine the best course of treatment.

References:

• [1] - Characterized by global developmental delay.
• [8] - Global developmental delay with hypotonia and mildly delayed walking.
• [5] - Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient.

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 45 (MRT45):

• Early symptoms: Poor muscle tone (hypotonia) and delays in the development of motor skills like sitting, standing, and walking [7].
• Speech affected: Speech is also affected, which can lead to delayed or impaired communication skills.
• Developmental milestones: Delayed developmental milestones, including mildly delayed motor skills and speech development [5].

Additionally, some sources suggest that individuals with MRT45 may experience:

• Hypotonia: Poor muscle tone, which can affect overall physical development and coordination.
• Scoliosis: Abnormal curvature of the spine, which can be a result of poor muscle tone or other underlying conditions.

It's essential to note that these symptoms can vary in severity and presentation among individuals with MRT45. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References: [5] - Symptoms mentioned in family A, including mildly delayed developmental milestones. [7] - Early symptoms of poor muscle tone (hypotonia) and delays in motor skill development.

Based on the provided context, here are some diagnostic tests for autosomal recessive intellectual developmental disorder:

• Clinical Genetic Test: A clinical genetic test offered by Intergen can diagnose conditions such as Intellectual disability, autosomal recessive 12 (IDAR12) [2]. This test targets specific genes, including ST3GAL3 (1p34.1) [2].
• Targeted Variant Analysis: Two targeted variant analysis tests are available for molecular genetics testing, which can identify mutations in specific genes associated with autosomal recessive intellectual developmental disorder [1].
• Intellectual Disability Exome Sequencing: This test involves the analysis of exome sequencing data in a predefined set of genes associated with non-syndromic intellectual disability, including autosomal recessive forms [7].
• Chromosomal Microarray: A consensus statement recommends chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, which may include autosomal recessive intellectual developmental disorder [4].
• Intellectual Disability Exome Sequencing: This test involves the analysis of exome sequencing data in a predefined set of genes associated with non-syndromic intellectual disability, including autosomal recessive forms [7].

Please note that these tests are not exhaustive and may vary depending on individual circumstances. It's essential to consult with a healthcare professional for personalized advice.

References: [1] - Context 1 [2] - Context 2 [4] - Context 4 [7] - Context 7

Autosomal recessive intellectual developmental disorder 45 (MRD45) is a rare genetic condition characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior.

Current Research and Findings

Research on MRD45 is limited, but studies suggest that there are no specific treatments available to cure the condition. However, various interventions can help manage its symptoms and improve quality of life (5).

• Behavioral Therapies: Behavioral therapies such as Applied Behavior Analysis (ABA) and Positive Behavioral Supports (PBS) can be effective in managing behavioral problems associated with MRD45 (7).
• Speech and Language Therapy: Speech and language therapy can help individuals with MRD45 improve their communication skills and address any related speech or language difficulties (5).
• Occupational Therapy: Occupational therapy can assist individuals with MRD45 in developing daily living skills, such as personal care, meal preparation, and household management (7).

Genetic Counseling

Genetic counseling is an essential aspect of managing MRD45. It provides families with information about the condition's inheritance pattern, recurrence risk, and available genetic testing options (2).

• Prenatal Testing: Prenatal testing can be performed to detect the presence of the HNMT gene mutation in a fetus (2).
• Genetic Testing: Genetic testing can confirm the diagnosis of MRD45 and identify carriers of the condition (4).

Support Services

Individuals with MRD45 and their families may benefit from various support services, including:

• Respite Care: Respite care provides temporary relief for caregivers, allowing them to take a break and recharge (5).
• Support Groups: Support groups offer a safe space for individuals with MRD45 and their families to share experiences, receive emotional support, and connect with others who face similar challenges (7).

References

1. Clinical resource with information about Intellectual disability autosomal recessive 53 and its clinical features, PIGG, available genetic tests from US and ...
2. Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.
3. INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A; MRT2 ... treatment in a preclinical model. Deng R, Medico ...
4. Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.
5. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested ...
6. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
7. Definition. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and ...
8. Autosomal dominant intellectual developmental disorder-42 (MRD42) is characterized by global developmental delay and impaired intellectual development.
9. May 31, 2022 — This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, ...
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 ...

The differential diagnosis for autosomal recessive intellectual developmental disorder (ARID) involves considering various genetic and syndromic conditions that can present with similar symptoms.

According to the search results, ARID contributes to about 10% of cases in an outbred population [1]. The syndrome has a broad differential diagnosis, including syndromes with primary microcephaly and absence/delay of speech [8].

Some autosomal dominant disorders that should be considered in the differential diagnosis include:

• Angelman syndrome: characterized by severe intellectual and developmental disabilities [6]
• Achondroplasia: a genetic disorder causing short stature and other physical abnormalities
• Amelogenesis imperfecta: a condition affecting tooth development
• Marfan syndrome: a genetic disorder affecting the body's connective tissue

Other conditions that may be considered in the differential diagnosis of ARID include:

• Autosomal dominant intellectual developmental disorders, such as those caused by mutations in the BCL11A or BCL11B genes [13]
• X-linked disorders, which are associated with substantially higher recurrence risks and can be identified through reproductive testing options [14]

It's also important to consider nonsyndromic X-linked intellectual developmental disorder (NSID), which is characterized by isolated intellectual disability without other distinctive findings. The differential diagnosis for NSID includes all genes known to be associated with intellectual disability, as listed in the OMIM Autosomal Dominant, Autosomal Recessive, Nonsyndromic X-Linked, and Syndromic X-Linked Intellectual Developmental Disorder Phenotypic Series [15].

In terms of prevalence, a study of 7448 ID cases revealed that autosomal recessive defects accounted for 11.7% of all cases with a clear molecular diagnosis, but an over-proportionate fraction of ARID was in consanguineous families [10].