autosomal dominant intellectual developmental disorder 22

Autosomal Dominant Intellectual Developmental Disorder 22 (MRD22) is a rare genetic condition characterized by impaired intellectual development [3]. Individuals with MRD22 often experience significant cognitive and adaptive impairments, which become apparent in early childhood [6].

The symptoms of MRD22 can vary from person to person, but common features include:

• Impaired intellectual development
• Frequent co-occurrence of corpus callosum anomalies (a rare brain condition)
• Hypotonia (low muscle tone)
• Microcephaly (small head size)

MRD22 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated ZBTB18 gene on chromosome 1q44 is sufficient to cause the condition [4][5]. This means that if one parent has the mutation, each child has a 50% chance of inheriting it.

It's worth noting that MRD22 is a rare condition, and more research is needed to fully understand its effects on individuals and their families.

Autosomal dominant intellectual developmental disorder 22 (MRD22) is a rare genetic condition characterized by impaired intellectual development, corpus callosum anomalies, hypotonia, microcephaly, growth problems, and variable facial dysmorphism.

Common Signs and Symptoms:

• Developmental delays, including fine motor skills, speech, and language [6]
• Moderate to profound intellectual disability [5]
• Decreased muscle tone (hypotonia) [5]
• Absent or delayed development of motor skills like sitting, standing, and walking [9]
• Speech and language difficulties [3]
• Developmental delays in growth and speech development [3]

Other Associated Symptoms:

• Corpus callosum anomalies [8, 10, 13]
• Microcephaly (small head size) [8, 10, 13]
• Growth problems [8, 10, 13]
• Variable facial dysmorphism (abnormalities in facial features) [8, 10, 13]

Important Notes:

• Each person with MRD22 may experience a unique set of symptoms and severity levels can vary.
• Early symptoms may include poor muscle tone (hypotonia) and delays in the development of motor skills like sitting, standing, and walking [9].

References: [3] - Dec 1, 2019 — Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild ... [5] - Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or ... [6] - Developmental delays, including fine motor skills, speech and language. Schizophrenia. Seizures. Immune system symptoms. A deletion on chromosome 22 can cause ... [8] - MRD22 is characterized by impaired intellectual development with frequent cooccurrence of corpus callosum anomalies, hypotonia, microcephaly, ... [9] - Early symptoms include poor muscle tone (hypotonia) and delays in the devlopment of motor skills like sitting, standing, and walking. Speech is also affected, ... [10] - intellectual developmental disorder, autosomal dominant 22 Summary MRD22 is characterized by impaired intellectual development with frequent cooccurrence of corpus callosum anomalies, hypotonia, microcephaly, growth problems, and variable facial dysmorphism (summary by van der Schoot et al., 2018). [13] - Summary (AI-Supported) Intellectual developmental disorder, autosomal dominant 22 (MRD22) is characterized by impaired intellectual development, corpus callosum anomalies, hypotonia, microcephaly, growth problems, and variable facial dysmorphism.

Based on the provided context, here are some diagnostic tests that may be used to identify autosomal dominant non-syndromic intellectual disability 22:

• Deletion/duplication analysis [1]
• Detection of homozygosity [4]
• Microsatellite instability testing (MSI) [3]

It's worth noting that genetic testing, such as whole exome or genome sequencing, may also be used to diagnose this condition, especially if the features are common and other tests have not provided a clear diagnosis [11].

Additionally, chromosome microarray analysis, testing for fragile X syndrome, karyotype analysis, and metabolic testing may also be considered in the diagnostic process [9].

Based on the provided context, it appears that there is limited information available on the specific treatment of autosomal dominant intellectual developmental disorder 22 (ADID22). However, I can provide some general information on the topic.

Rehabilitation Training According to search result [9], rehabilitation training may be an intervention for individuals with ADID22. This could include various forms of therapy aimed at improving cognitive and adaptive functions.

Therapies and Medical Interventions Search result [5] mentions that the 22q Center at Nationwide Children's Hospital offers therapies and medical interventions to help address developmental delays associated with 22q11.2 deletion syndrome, which may be related to ADID22. These interventions could potentially be beneficial for individuals with ADID22.

No Cure Available Unfortunately, search result [5] also notes that there is no cure available for the 22q11.2 deletion syndrome, which may imply a similar lack of treatment options for ADID22.

In summary, while specific information on drug treatment for autosomal dominant intellectual developmental disorder 22 (ADID22) is limited, rehabilitation training and therapies may be beneficial interventions for individuals with this condition.

References: [5] - No cure available for the 22q11.2 deletion syndrome [9] - Rehabilitation training as an intervention for ADID22

Autosomal dominant intellectual developmental disorder (IDD) has a broad differential diagnosis, which means that it can be confused with other conditions that have similar symptoms. Here are some of the possible differential diagnoses for IDD:

• Primary microcephaly: This is a condition where the head circumference is smaller than average, and it can be associated with intellectual disability.
• Absence or delay of speech development: Some individuals with IDD may experience delays in speech development, which can make diagnosis challenging.
• DYRK1A syndrome: This is a rare neurodevelopmental disorder that is characterized by global developmental delay, intellectual disability of varying severity, and learning difficulties.

According to [5], the differential diagnosis for DYRK1A syndrome includes conditions such as primary microcephaly and absence or delay of speech development. Additionally, [8] mentions that there is a broad differential diagnosis for IDD, which can include these conditions.

It's worth noting that autosomal dominant IDD is a specific condition that is caused by mutations in one copy of the gene. Dominant mutations may be inherited from an affected parent or arise de novo (spontaneously) [4]. The diagnosis of IDD is established through chromosomal microarray analysis, which can identify deletions or duplications in the genome [1].

References:

[1] May 9, 2024 — The diagnosis of 22q11.2DS is established by identification of a heterozygous deletion at chromosome 22q11.2 on chromosomal microarray analysis ...

[4] Autosomal dominant disorders are those that result from a mutation in one copy of the gene. Dominant mutations may be inherited from an affected parent or arise de novo (sp