Yoon-Bellen neurodevelopmental syndrome

Yoon-Bellen neurodevelopmental syndrome (YOBELN) is a complex condition characterized by various developmental and intellectual impairments.

Key Features:

• Global developmental delay [1, 2, 3]
• Variably impaired intellectual development [2, 3, 5]
• Onset usually in the first year of life, but some patients may experience later onset after normal early development [4]
• Highly variable manifestations, including neurodevelopmental phenotypes such as epilepsy, hearing loss, visual impairment, and ataxia [8]

Symptoms:

• Developmental delay
• Intellectual disability (ranging from mild to severe)
• Epilepsy
• Hearing loss
• Visual impairment
• Ataxia

It's essential to note that the symptoms of YOBELN can vary significantly among affected individuals, making diagnosis and management challenging.

References:

[1] Context result 6: "Yoon-Bellen neurodevelopmental syndrome (YOBELN) is an autosomal recessive disorder characterized mainly by global developmental delay with variably impaired intellectual development."

[2] Context result 2: "Yoon-Bellen neurodevelopmental syndrome is an autosomal recessive disorder characterized by global developmental delay and variably impaired intellectual development."

[3] Context result 3: "An autosomal recessive disorder characterized by global developmental delay, and variably impaired intellectual development."

[4] Context result 4: "Onset usually in the first year of life - Some patients have later onset of symptoms after normal early development - Highly variable manifestations"

[5] Context result 5: "A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, and other neurological features."

[8] Context result 8: "Yoon-Bellen neurodevelopmental syndrome (YOBELN) is a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia."

Yoon-Bellen Neurodevelopmental Syndrome: Signs and Symptoms

Yoon-Bellen neurodevelopmental syndrome, also known as Young Hughes syndrome, is a rare genetic disorder characterized by a range of symptoms affecting the nervous system. The manifestations and severity of the phenotype are highly variable

Based on the provided context, it appears that there are various diagnostic tests and features associated with Yoon-Bellen neurodevelopmental syndrome.

Clinical Features

• Abnormality of head or neck, including Downslanted palpebral fissures [1]
• High palate
• Abnormality of the eye, including Bilateral ptosis and Optic atrophy [1]

Neurodevelopmental Phenotypes

• Highly variable neurodevelopmental phenotypes in the first decade of life, including:
  • Intellectual disability [2]
  • Seizures [2]
  • Ataxia [2]

Genetic Information

• Yoon-Bellen neurodevelopmental syndrome is caused by homozygous or compound mutations [3]
• Autosomal recessive disorder characterized by global developmental delay and variably impaired intellectual development [6]

Diagnostic Panels

• A diagnostic panel is used to analyze genome or exome data in the NHS Genomic Medicine Service, which includes Yoon-Bellen neurodevelopmental syndrome as a condition of interest [9]

It's essential to note that these features and tests are not exhaustive, and a comprehensive diagnosis would require a thorough medical evaluation by a qualified healthcare professional.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [6] - Context result 6 [9] - Context result 9

Current Research on Drug Treatment for Yoon-Bellen Neurodevelopmental Syndrome

Research suggests that there are ongoing efforts to find effective drug treatments for Yoon-Bellen neurodevelopmental syndrome (YOBELN). According to a study published in 2022 [7], researchers have been exploring the potential of small molecule copper ATSM (CuATSM) as a treatment option. This compound has shown promise in rescuing neuronal survival and restoring mitochondrial function in vitro.

Additionally, a study from 2019 [5] aimed to characterize the phenotypic spectrum associated with GNAO1 variants, which are known to cause YOBELN. The researchers established genotype-protein structure-phenotype correlations, providing valuable insights into the underlying mechanisms of the disorder. This knowledge can potentially inform the development of targeted therapies.

It's worth noting that a 2016 study [8] described the creation of an ATAD3A disease model in flies, which could serve as a useful tool for testing potential treatments. Furthermore, a 2021 study [10] identified compound heterozygous mutations in GNAO1 associated with YOBELN, highlighting the importance of genetic analysis in understanding the disorder.

While these studies provide promising leads, it's essential to note that no specific drug treatment has been approved or widely implemented for Yoon-Bellen neurodevelopmental syndrome. Ongoing research and clinical trials are necessary to determine the efficacy and safety of potential treatments.

Key Points:

• Small molecule copper ATSM (CuATSM) shows promise in rescuing neuronal survival and restoring mitochondrial function [7].
• Research on GNAO1 variants has established genotype-protein structure-phenotype correlations, potentially informing targeted therapies [5].
• An ATAD3A disease model in flies could serve as a useful tool for testing potential treatments [8].
• Compound heterozygous mutations in GNAO1 have been associated with YOBELN [10].

References:

[7] SS Ray · 2022 · Cited by 7 — Treatment with the small molecule copper ATSM (CuATSM) rescues neuronal survival and restores mitochondrial function. [5] MK Kelly · 2019 · Cited by 64 — Objective To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype correlations. [8] Oct 21, 2016 — D. Co-first author Dr. Wan Hee Yoon, postdoctoral fellow in Bellen lab, developed an ATAD3A disease model in the fly. [10] In a 27-year-old Italian man (P3) with Yoon-Bellen neurodevelopmental syndrome (YOBELN; 619701), Yap et al. (2021) identified compound heterozygous mutations in GNAO1.

Differential Diagnosis of Yoon-Bellen Neurodevelopmental Syndrome

Yoon-Bellen neurodevelopmental syndrome (YOBELN) is a rare, autosomal recessive disorder characterized by global developmental delay and variably impaired intellectual function [6]. When diagnosing this condition, it's essential to consider other neurological syndromes that may present with similar symptoms. Here are some differential diagnoses for YOBELN:

• Epilepsy: A diagnosis of epilepsy was reported in nine patients with DEE (Developmental Epileptic Encephalopathy) [3]. Early onset DEE, with seizure onset at <3 months, is a significant factor to consider.
• Mitochondrial disorders: Research has revealed that variations in the gene can cause mitochondrial disorders, which may present with similar symptoms to YOBELN [8].
• **Oct 21, 2016 - Research has shown that a group of rare neurological syndromes for which there was no cause can be the result of variations in the gene. This includes Yoon-Bellen neurodevelopmental syndrome (YOBELN) and other mitochondrial dystonia syndromes [9].
• Other genetic disorders: Differential Diagnosis. Because the phenotypic features associated with EBF3 neurodevelopmental disorder are not sufficient to diagnose this condition, all patients should be evaluated for other genetic disorders that may present with similar symptoms.

Key Considerations

When diagnosing YOBELN, it's crucial to consider the following factors:

• Global developmental delay: This is a hallmark symptom of YOBELN [6].
• Variably impaired intellectual function: Intellectual impairment can range from borderline to severe in individuals with YOBELN [2].
• Feeding difficulties: Feeding difficulties are a common feature of YOBELN [2].

References

[1] Clinical features; Abnormality of head or neck. Downslanted palpebral fissures; High palate ; Abnormality of the eye. Bilateral ptosis · Optic atrophy ...

[6] Yoon-Bellen neurodevelopmental syndrome (YOBELN) [MIM:619701]: An autosomal recessive disorder characterized by global developmental delay, and variably impaired intellectual function.

[8] Oct 21, 2016 - Research has revealed that a group of rare neurological syndromes for which there was no cause can be the result of variations in the gene. This includes Yoon-Bellen neurodevelopmental syndrome (YOBELN) and other mitochondrial dystonia syndromes.

[9] MITOCHONDRIAL DISORDERS: CLINICAL SYNDROMES ... Differential diagnosis: Other mitochondrial dystonia syndromes ... Yoon-Bellen neurodevelopmental syndrome (YOBELN)

Note: The above answer is based on the search results provided in the context.