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Nicolaides Baraister Syndrome NCBRS · Health and Healing Dealing with Trauma and Addictions

• 0:08
  SPEAKER_00: Yep, and once again it's your guide, Mike D.
• 0:10
  SPEAKER_00: Hey guys, welcome.
• 0:12
  SPEAKER_00: I come across something that I never heard before, and I wanted to share that with my listening audience.
• 0:19
  SPEAKER_00: And I hope you can find in your heart to understand, recognize, and realize that we have a lot of different things that are going on in the lives of people around the world that we're unfamiliar with.
• 0:31
  SPEAKER_00: Nevertheless, keep in mind that we want to continue to lift up some of our children that are dealing with some of these diseases and issues as well.
• 0:40
  SPEAKER_00: And it's called Nicolaitis Baretster Syndrome or NCBRS.
• 0:48
  SPEAKER_00: It's an ultra rare genetic disorder and it's characterized by severe developmental delays, intellectual disability, and a distinct facial and digital features, epilepsy and behavior.
• 1:06
  SPEAKER_00: One may ask what causes this condition?
• 1:09
  SPEAKER_00: NCBRS is caused by a spontaneous mutation in the SMARCA to gene located on the chromosome number nine.
• 1:21
  SPEAKER_00: It follows an autosomal dominant inheritance pattern, meaning a single copy of the altered gene causes the condition, though nearly all cases occur sporotically as a new mutation with no family history.
• 1:38
  SPEAKER_00: It is rare but not uncommon.
• 1:40
  SPEAKER_00: A case study is a four-year-old boy who previously had been diagnosed with Williams syndrome, presented to a pediatric clinic after the family had immigrated to the United States from Mexico.
• 1:54
  SPEAKER_00: We'll call him Marco.
• 1:56
  SPEAKER_00: Marco had been born at forty week gestation via spontaneous vaginal delivery with no complications.
• 2:04
  SPEAKER_00: His birth weight was two point nine kilograms.
• 2:07
  SPEAKER_00: There was no family history of developmental delay or congenital defects.
• 2:12
  SPEAKER_00: Marco's developmental milestones were delayed, including his first steps not taken until age two, an absence of speech, and a failure to toilet train at the age of four.
• 2:24
  SPEAKER_00: In addition, he also required a diaper, poor social interactions with other children, and a failure to thrive.
• 2:32
  SPEAKER_00: A neurologist was consulted.
• 2:34
  SPEAKER_00: This is his physical examination, and a complete evaluation was performed.
• 2:39
  SPEAKER_00: On the physical examination, the patient presented with thin hair, smooth filtrum, or the vertical groove on the surface of the upper lip below the settum of the nose.
• 2:50
  SPEAKER_00: He had puffy eyes and slightly antiverted nails.
• 2:55
  SPEAKER_00: He was able to make steady eye contact and maintain a social smile at his mother and the examiner.
• 3:01
  SPEAKER_00: Marco was able to make babbling noises but could not form words.
• 3:06
  SPEAKER_00: Around one third of the people with this syndrome may never speak.
• 3:10
  SPEAKER_00: He had low muscle tone throughout the upper and lower extremities, with no normal muscle strength.
• 3:16
  SPEAKER_00: His gait was steady with a shoulder with bass.
• 3:19
  SPEAKER_00: The rest of the examination findings were within normal limits, which is identified by the characteristics mentioned earlier.
• 3:27
  SPEAKER_00: From the assessment, the neurologist agreed that Markle most likely had Williams syndrome, but recommended that he be seen by a geneticist due to the complete absence of speech and language development.
• 3:39
  SPEAKER_00: Although Markle displayed the typical features of WS or the Williams syndrome, such as long filtrum and intellectual disability, he did not exhibit the strength in spoken language and hyperclasmia as seen in other individuals with WS.
• 3:57
  SPEAKER_00: Other differential diagnoses included Coffin Cirrus syndrome or CSS and Nicolatus Baratester syndrome in CBRS.
• 4:08
  SPEAKER_00: CSS produces similar coarse facial features as seen in the patient, but it is also classically characterized by the absence of hypoplastic fifth nails or distal flant lecks of the hands and or the feet.
• 4:25
  SPEAKER_00: And these features were not present in this patient.
• 4:29
  SPEAKER_00: Common characteristics of individuals with NCBRS include sparse scalp, hair, as we mentioned earlier, prominence of interphalangeal joints, coarse faces, and intellectual disability, all of which were exhibited by Marco.
• 4:45
  SPEAKER_00: Upon examination by the geneticist, the patient weight, height, and head circumference were reported to be in the sixty fifth, fifty ninth, and sixty third percentiles, respectively.
• 4:59
  SPEAKER_00: In addition to the sparse scalp hair, the geneticist noted the narrow forehead and hypercitriosis on his sides and posterior midline of his cranium.
• 5:12
  SPEAKER_00: Diagnosis of NCBRS is difficult to make and is often misdiagnosed.
• 5:19
  SPEAKER_00: Diagnoses often require multiple workups that encompasses various tests and medical specialties.
• 5:26
  SPEAKER_00: Early diagnosis of this condition is especially important due to the progress nature of its severity.
• 5:33
  SPEAKER_00: NCBRS frequently presents well defined ophthalomic and facial abnormalities.
• 5:40
  SPEAKER_00: Optalmologic evaluations following NCBRS diagnosis may be recommended to screen for several eye disorders.
• 5:49
  SPEAKER_00: Surgical correction of ptosis may be indicated for NCBRS patients.
• 5:54
  SPEAKER_00: This report may help further delineate the phenotype of this condition, which may allow for more rapid identification of those affected and provide incentives for additional studies.
• 6:07
  SPEAKER_00: I don't know what all this means, but I do know there is no cure for the disease.
• 6:12
  SPEAKER_00: But treatment can help with the management of the symptoms.
• 6:16
  SPEAKER_00: Based on the symptoms, the treatment can consist of medication, physical therapy, speech therapy, and occupational therapy.
• 6:24
  SPEAKER_00: As a parent receiving a diagnosis of nicolitis by Raster's syndrome for your child, it can be quite overwhelming and you may not know where to start.
• 6:34
  SPEAKER_00: I encourage you to educate yourself as much as possible about NCBRS.
• 6:39
  SPEAKER_00: This will make it so much easier to become an effective advocate for your child.
• 6:44
  SPEAKER_00: There is a community of families whose children have this rare syndrome.
• 6:49
  SPEAKER_00: Search to find others that are dealing with this issue and build a support system who understands the challenges, emotions, and practicalities that you are faced with every day.
• 7:00
  SPEAKER_00: And know that we out here in your community are believing God for you and your precious little one as you all deal with this serious issue.
• 7:18
  SPEAKER_00: And this is why we do what we do.
• 7:20
  SPEAKER_00: We want to help to educate and encourage, even support those who are dealing with health, healing, and with trauma and addiction, who are facing healing crises.
• 7:32
  SPEAKER_00: So know our prayers are with you.
• 7:34
  SPEAKER_00: God bless you.
• 7:34
  SPEAKER_00: Take care.
• 7:35
  SPEAKER_00: Bye now.