autosomal recessive intellectual developmental disorder 47

Based on the search results, it appears that there are several conditions related to autosomal recessive intellectual developmental disorders. However, I couldn't find a specific description for condition 47.

But, I can provide you with some general information about these types of disorders. According to search result [4], Autosomal recessive intellectual developmental disorder-77 (MRT77) is a nonsyndromic neurodevelopmental disorder characterized by global developmental delay, which affects motor, speech, adaptive, and social development.

Similarly, search result [3] mentions that MRT38 is characterized by global developmental delay affecting motor, speech, adaptive, and social development. Patients manifest autistic features, aggression, and other behavioral problems.

It's worth noting that these conditions are rare and may have varying symptoms. If you're looking for information on a specific condition, it might be helpful to provide more context or details about the disorder in question.

Here are some general characteristics of autosomal recessive intellectual developmental disorders:

• Global developmental delay: This is a common feature among these disorders, affecting motor, speech, adaptive, and social development.
• Intellectual disability: These conditions are associated with below-average intellectual functioning.
• Autistic features: Some individuals may exhibit autistic behaviors or symptoms.
• Behavioral problems: Aggression, anxiety, and other behavioral issues may be present.

Please keep in mind that this is a general overview, and specific details about condition 47 might not be available. If you have any further questions or would like to know more about these conditions, feel free to ask!

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 47 (MRT47):

• Autistic behavior [2]
• Cerebral atrophy [2]
• Chiari type I malformation [2]
• Delayed speech and language development [2, 6]
• Global developmental delay [2]
• Hand tremors or other involuntary movements (motor tics) [3]
• Seizures [3]
• Asthma [3]
• Abnormal periventricular white matter morphology [4]
• Babinski sign [4]
• Delayed ability to walk [4]
• Dysarthria [4]
• Dystonic disorder [4]

It's worth noting that these symptoms may vary in severity and presentation from one individual to another. Additionally, early diagnosis and intervention can significantly impact the outcome and quality of life for individuals with MRT47.

References: [2] Clinical features [3] Mar 2, 2022 — Other signs and symptoms of this condition include... [4] Abnormal periventricular white matter morphology · Babinski sign · Delayed ability to walk · Delayed speech and language development · Dysarthria · Dystonic disorder ...

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal recessive intellectual developmental disorder 74:

• 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, and any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually [5].
• Karyotype analysis: G-banded karyotyping historically has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID [7].
• Metabolic testing: Metabolic testing may also be considered to rule out other conditions that may present with similar symptoms [9].

It's worth noting that the specific diagnostic tests used may vary depending on individual circumstances and the guidance provided by healthcare professionals.

References: [3] Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [5] Any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually. Please contact us directly for cost and CPT ... [7] Sep 1, 2014 — G-banded karyotyping historically has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID for more than ... [9] 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) 47, also known as Mental Retardation, Autosomal Recessive 47 (MRT47), 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 that can cure ARIDD 47. However, various therapeutic approaches may 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 to children with developmental delays can be beneficial in improving their cognitive and adaptive skills [2].
• Speech and Language Therapy: Speech and language therapy can help individuals with ARIDD 47 develop communication skills, which is essential for social interaction and daily functioning [3].
• Occupational Therapy: Occupational therapy can assist individuals with ARIDD 47 to develop fine motor skills, hand-eye coordination, and other adaptive behaviors necessary for daily living [4].

Emerging Therapies

Researchers are exploring various emerging therapies that may potentially benefit individuals with ARIDD 47. These include:

• Gene Therapy: Gene therapy involves introducing a healthy copy of the gene into cells to replace the faulty one. This approach is still in its infancy but holds promise for treating genetic disorders [5].
• Stem Cell Therapy: Stem cell therapy involves using stem cells to repair or replace damaged cells. While this approach is also experimental, it may offer new avenues for treatment [6].

References

[1] - Information on clinical resource with PIGG available genetic tests from US and other countries. [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] - Genetic therapies can treat diseases by using viral vector or nanoparticles for gene delivery to introduce, repair, or replace defective or missing genes, ... [6] - Autosomal recessive intellectual developmental disorder-41 (MRT41) is characterized by macrocephaly and global developmental delay. Some patients have seizures ...

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

According to the provided context, ARID contributes to about 10% of cases in an outbred population [3]. The syndrome has a wide range of differential diagnoses, including:

• 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]
• Intellectual disability-sparse hair-brachydactyly syndrome: A condition characterized by intellectual disability, sparse hair, and short fingers [7]
• Zimmermann-Laband syndrome: A rare genetic disorder that affects physical and intellectual development [7]

Additionally, the differential diagnosis for ARID may also include other conditions such as:

• Autosomal dominant intellectual developmental disorders
• Nonsyndromic X-linked intellectual developmental disorders
• Syndromic X-linked intellectual developmental disorders

It's worth noting that a specific genetic diagnosis can be made by identifying pathogenic variants in genes associated with intellectual disability, and determining the respective inheritance pattern [14]. This information can help guide counseling and reproductive testing options.

References:

[3] R Jamra · 2018 · Cited by 57 [6] Dec 19, 2023 [7] Differential diagnoses include Coffin-Siris syndrome, intellectual disability-sparse hair-brachydactyly syndrome, Zimmermann-Laband syndrome, fetal alcohol ... [14] On the other hand, autosomal dominant, autosomal recessive, and X-linked disorders are associated with substantially higher recurrence risks.