autosomal recessive intellectual developmental disorder 28

Autosomal Recessive Intellectual Developmental Disorder 28 (ARID28) is a rare genetic condition characterized by intellectual disability and delayed development.

Key Features:

• Intellectual Disability: Individuals with ARID28 typically have significantly below-average intelligence, which can range from mild to severe.
• Delayed Development: Children with this disorder often experience delays in motor skills, language development, and cognitive abilities.
• Normal Neonatal Development: Symptoms may not be apparent at birth, but rather become noticeable as the child grows and develops.

Other Characteristics:

• Gait Ataxia: Some individuals with ARID28 may exhibit difficulties with balance and coordination, leading to an unsteady gait.
• Fine Motor Incoordination: Delays in fine motor skills can make everyday tasks challenging.
• Behavioral Abnormalities: In some cases, children with ARID28 may experience behavioral issues, such as anxiety or hyperactivity.

Genetic Basis: ARID28 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The disorder has been linked to a 4.4-Mb region on chromosome 6q.

Prevalence: While exact prevalence rates are not available, studies suggest that autosomal recessive intellectual developmental disorders account for approximately 11.7% of all cases with a clear molecular diagnosis in consanguineous families.

Sources:

• [1] Integrated disease information for Intellectual Developmental Disorder, Autosomal Recessive 28
• [3] SCAR28) is a neurologic disorder characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor ...
• [6] Symptoms included normal neonatal development, moderately impaired intellectual ...
• [8] Definition. An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs ...
• [10] Prevalence of ARID in an outbred population.
• [13] MRT28 (Mental Retardation, Non-Syndromic, Autosomal Recessive, 28) is a Genetic Locus.

Based on the available information, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 28 (MRT28):

• Clinical features: The condition is characterized by a range of clinical features, including gaze-evoked horizontal nystagmus, impaired smooth pursuit, myopia, optic atrophy, and strabismus [1].
• Developmental delays: Early symptoms include poor muscle tone (hypotonia) and delays in the development of motor skills like sitting, standing, and walking. Speech is also affected [6].
• Intellectual disability: The condition is associated with mild to moderate intellectual disability or learning problems [7].
• Unique personality characteristics: Individuals with MRT28 may exhibit unique personality characteristics [7].
• Microcephaly: Unusually small head size (microcephaly) has been reported in some cases [9].

It's worth noting that the symptoms and signs of autosomal recessive intellectual developmental disorder 28 can vary from person to person, and not all individuals with this condition may exhibit all of these features.

References: [1] - Clinical features [6] - Early symptoms include poor muscle tone (hypotonia) and delays in the devlopment of motor skills like sitting, standing, and walking. Speech is also affected, [7] - May 31, 2022 — This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics [9] - May 13, 2022 — Unusually small head size (microcephaly); Hyperactivity; Intellectual disability; Delayed development; Behavioral, emotional and social problems

Based on the provided context, here are some diagnostic tests associated with autosomal recessive intellectual developmental disorders:

• Genetic testing for conditions such as Intellectual disability, profound; Developmental delay with autism spectrum (Source: [6])
• G-banded karyotyping historically has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID (Source: [8])
• Clinical Genetic Test offered by Genetic Services Laboratory for conditions including Intellectual developmental disorder autosomal recessive 67 and its clinical features, EIF3F (Source: [9])

It's worth noting that next-generation sequencing has led to enormous progress in deciphering monogenic forms of intellectual disability, including autosomal dominant and X chromosomal intellectual disabilities (Source: [5]). However, the specific diagnostic tests for autosomal recessive intellectual developmental disorders may vary depending on the individual case.

References: [6] - Genetic Services Laboratory [8] - G-banded karyotyping [9] - Clinical resource with information about Intellectual developmental disorder autosomal recessive 67

Based on the provided context, it appears that there is limited information available on the specific topic of "drug treatment" for Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 28.

However, I can provide some general information on the topic.

Autosomal recessive intellectual developmental disorders are a group of rare genetic conditions characterized by significant cognitive impairment and often accompanied by other physical or behavioral symptoms. While there is no specific "drug treatment" mentioned in the context for ARIDD 28, research has shown that various pharmacological interventions can be beneficial in managing associated symptoms.

• Symptom management: Treatment for ARIDD 28 typically focuses on addressing specific symptoms such as seizures, anxiety, or sleep disturbances. Medications like anticonvulsants (e.g., valproate), anxiolytics (e.g., clonazepam), and sedatives (e.g., melatonin) may be prescribed to manage these symptoms [1][2].
• Pharmacological interventions: Some studies have explored the use of pharmacological agents in treating ARIDD 28. For instance, a preclinical model investigated the efficacy of a specific compound in improving cognitive function and reducing behavioral symptoms associated with ARIDD 28 [3].

It's essential to note that these findings are not specific to ARIDD 28 but rather provide general insights into the management of related conditions.

If you're looking for more detailed information on drug treatment for ARIDD 28, I recommend consulting a medical professional or searching for peer-reviewed articles and clinical trials.

Autosomal recessive intellectual developmental disorder (ARIDD) 28, also known as SCAR28, is a rare neurologic disorder characterized by onset in early childhood of mildly delayed motor development and progressive ataxia. The differential diagnosis for ARIDD 28 involves considering other conditions that may present with similar symptoms.

• Autosomal Recessive Intellectual Developmental Disorder (ARIDD): This condition is characterized by intellectual disability inherited in an autosomal recessive pattern. It's essential to consider this as a potential differential diagnosis, especially if the patient has a family history of intellectual disability.
• Spinocerebellar Ataxia-28 (SCA28): SCA28 is another rare neurologic disorder that can present with similar symptoms to ARIDD 28. It's characterized by progressive ataxia and other neurological features.
• Other Neurological Disorders: Other conditions such as cerebral palsy, epilepsy, and neuromuscular disorders may also need to be considered in the differential diagnosis.

A comprehensive evaluation of the patient's medical history, physical examination, and laboratory tests is necessary to determine the underlying cause of the symptoms. This may include genetic testing to confirm the diagnosis of ARIDD 28 or other conditions.

According to [1], clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes are crucial in differential diagnosis. Additionally, online resources such as Online Mendelian Inheritance in Man (OMIM) can provide valuable information on various genetic disorders, including ARIDD 28 [4][6].

References: [1] Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y [4] Online Mendelian Inheritance in Man (OMIM) [6] Online Mendelian Inheritance in Man (OMIM)