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Optic Atrophy-Intellectual Disability Syndrome

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome


Presentation

  • Though there is presently no cure for BBSOAS, with early intervention and proper management, much can be done to improve the quality of life of those affected.[tsbvi.edu]
  • Strabismus and latent nystagmus are often present. Up slanting palpebral fissures and epicanthal folds have been noted. Visual acuity levels have not been reported.[disorders.eyes.arizona.edu]
  • At present, this should include physical therapy, occupational therapy, and speech therapy, as well as ABA therapy if autism is present. There are also a variety of strategies that can be implemented to support children’s learning and development.[nr2f1.org]
Fishing
  • Citations There are currently no FISH related citations for this gene.[empiregenomics.com]
  • He is standing on the dock of a lake while holding a fishing pole. : : : : : #nr2f1 #nr2f1foundation @nr2f1foundation / 19 likes / 2 comments / 1 months ago Glasses don't help everyone with a vision impairment.[kapatu.com]
  • […] disease alpha-lecithin:cholesterol acyltransferase deficiency , see fish-eye disease alpha-mannosidase B deficiency , see alpha-mannosidosis alpha-mannosidase deficiency , see alpha-mannosidosis alpha-mannosidosis alpha-Methylacetoacetic aciduria , see[mygenomics.com]
Pneumonia
  • Respiratory causes, including aspiration and pneumonia, are the most common primary causes (31%) followed by gastrointestinal disease, including obstruction/volvulus (19%).[patient.info]
  • […] individualized education plan (IEP), Physical/Occupational/Speech therapy and others as indicated Sleep hygiene, ruling out sleep problems if indicated (such as obstructive sleep apnea) Prevention of infections: recommended vaccinations, prevention of aspiration pneumonia[childneurologyfoundation.org]
Heart Murmur
  • Shortly after Jamie was born, she developed a heart murmur and began passing out. Her mom, Liz, walks us through what it was like to witness such terrifying scenarios and how she began to become an advocate for her daughter.[player.fm]
Epicanthal Folds
  • Up slanting palpebral fissures and epicanthal folds have been noted. Visual acuity levels have not been reported.[disorders.eyes.arizona.edu]
Blue Eyes
  • I'm super thankful for every day these pretty blue eyes can stare straight back into mine #mamasboy #bbsoas @nr2f1foundation / 25 likes / 1 comments / 2 months ago The name 'Bosch-Boonstra-Schaaf optic atrophy syndrome' comes from the three researchers[kapatu.com]
Distractibility
  • If neither parent is affected and the mutation occurred de novo, the parents have a Introduce objects with bold colors and use simple pictures Reduce distractions and visual clutter (ex: place objects in front of an all-black background) Ensure your child[nr2f1.org]
Grieving
  • Why was I grieving? A wise friend summed it up for me, “You’re grieving because you hoped you wouldn’t have to take the path with the gigantic boulder in your way…but you do. There’s no going around it. This is the path you have to take.”[sayholalola.com]
Cognitive Deficit
  • In addition to visual and cognitive deficits, individuals with BBSOAS manifested hypotonia (75%), seizures (40%), autism spectrum disorder (35%), oromotor dysfunction (60%), thinning of the corpus callosum (53%), and hearing defects (20%).[read.qxmd.com]
  • Evaluation of the clinical features of 20 individuals with novel pathogenic NR2F1 variants demonstrated that, in addition to visual and cognitive deficits, individuals with BBSOAS manifested hypotonia (75%), seizures (40%), repetitive behavior (40%),[gene.sfari.org]
Perseveration
  • But we’ve also witnessed a little girl persevere through unbelievable hurdles. We’ve watched her push through therapies. We’ve seen her fail at tasks but then immediately try again. And through it all she continues to smile. She’s happy.[sayholalola.com]
  • Our kids are our heroes, they put up with so much and still they persevere. They are determined and they are happy! We are so lucky to have them in our lives.[kapatu.com]
Forgetful
  • Bonnie and Mark carver January 21, 2010 Decatur, GA I will never forget our many all night work sessions trying to get payroll done. We would talk about so many things and Doug always had a way to make things work or help to solve my latest problem.[legacy.com]
  • Touch, taste, smell, hearing and vision and don't forget movement! 3. ...[kapatu.com]
Language Development Disorder
  • Development Disorders Male Models, Molecular Muscle Hypotonia Mutation Optic Atrophies, Hereditary Optic Atrophy Seizures Whole Exome Sequencing[fcd.mcw.edu]
Excitement
  • She is already more focused and is so excited to see the world around her! We think they look great on her![kapatu.com]

Workup

Delayed Bone Age
  • Here we report two unrelated probands with novel, de novo, missense variants in NR2F1 The first is a 14-yr-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter[mayoclinic.pure.elsevier.com]
  • Here we report two unrelated probands with novel, de novo, missense variants in The first is a 14-yr-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels[fcd.mcw.edu]

Treatment

  • Treatment Treatment Options: Only symptomatic treatment is available. Low vision aids and special education may be of benefit.[disorders.eyes.arizona.edu]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • 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.[orpha.net]

Prognosis

  • PROGNOSIS Prognosis depends upon which disorder, which symptoms and the severity of those symptoms. Some of the conditions we thought were uniformly progressive and fatal are not (Leigh syndrome, for example).[childneurologyfoundation.org]
  • Guidelines detailing recommendations for evaluation and management of individuals diagnosed with CdLS have been published. [ 16 ] Prognosis [ 17 ] Most early deaths are in severely affected babies and occur in the first two years of life.[patient.info]

Etiology

  • (Etiology) There are many cause factors for Optic Nerve Atrophy, and these may be unrelated to each other.[dovemed.com]
  • CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology[molecularvisionlab.com]
  • Identifying the specific genetic etiology is important for counseling and clinical management. A 6-yr-old boy with a clinical diagnosis of DBA has been followed by our pediatric hematology team since birth.[readbyqxmd.com]
  • Awareness of orbital, ocular and adnexal development and the migratory pattern of neural crest cells is useful for understanding the etiology of congenital orbital, eyelid and lacrimal anomalies.[reviewofophthalmology.com]
  • Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 1996;38(7):684-7. Barth PG, Blennow G, Lenard HG, et al.[rarediseases.org]

Epidemiology

  • The basic problem appears to be the effect of the genetic mutation on cohesin, a protein which controls faithful chromosome segregation during mitotic and meiotic cell cycles. [ 4 ] Epidemiology [ 5 ] Data from the database of the European Surveillance[patient.info]
Sex distribution
Age distribution

Prevention

  • Centers for Disease Control and Prevention. (2015). "Key Findings: Prevalence of cerebral palsy, co-occurring autism spectrum disorders, and motor functioning".[cerebralpalsyguide.com]
  • With others, there is no treatment, or treatment may only prevent further vision loss.[medlineplus.gov]
  • "Azacytidine and retinoic acid, the latter a form of vitamin A, prevented tumor cells from rapidly multiplying, restored normal cell function, and activated several tumor suppressor genes that are often turned off in tumors," said study co-leader Maria[sciencedaily.com]
  • While this cuts through much of the red tape involved in the SSD application process, it does not prevent the need for completing the application or providing substantiating medical and other records associated with your child’s disability.[disabilitybenefitscenter.org]

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