Evidence map›Paper›PMID 28579975›Full record

ArticleFrontiers in endocrinology2017

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.

Illana Gozes, Marc C Patterson, Anke Van Dijck, R Frank Kooy, Joseph N Peeden, Jacob A Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Illana GozesThe Lily and Avraham Gildor Chair for the Investigation of Growth Factors, Elton Laboratory for Neuroendocrinology, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Adams Super Center for Brain Studies and Sagol School for Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Marc C PattersonDivision of Child and Adolescent Neurology, Pediatrics and Medical Genetics, Mayo Clinic Children's Center Rochester, Rochester, MN, USA.
Anke Van DijckCognitive Genetics Group, Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
R Frank KooyCognitive Genetics Group, Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Joseph N PeedenDiagnostic Clinic, East Tennessee Children's Hospital and Clinical Assistant Professor of Medicine at the University of Tennessee, Knoxville, TN, USA.
Jacob A EichenbergerPhysician Informaticist, Children's Hospital of Georgia at Augusta University, Augusta, GA, USA.
Angela Zawacki-DowningADNP Kids Research Foundation, Brush Prairie, WA, USA.
Sandra Bedrosian-SermoneADNP Kids Research Foundation, Brush Prairie, WA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundActivity-dependent neuroprotective protein (ADNP) is one of the most prevalent

aimThe aim of this study was to provide a detailed developmental case study of ADNP p.Tyr719* mutation toward improvements in (1) diagnostic procedures, (2) phenotypic scope, and (3) interventions.

methodsLongitudinal clinical and parental reports.

resultsAD (currently 11-year-old) had several rare congenital anomalies including imperforate anus that was surgically repaired at 2 days of age. Her findings were craniofacial asymmetries, global developmental delay, autistic behaviors (loss of smile and inability to make eye contact at the age of 15 months), and slow thriving as she gradually matures. Comprehensive diagnostic procedures at 3 years resulted in no definitive diagnosis. With parental persistence, AD began walking at 3.5 years (skipping crawling). At the age of 8.5 years, AD was subjected to whole exome sequencing, compared to the parents and diagnosed as carrying an ADNP p.Tyr719* mutation, a causal recurring mutation in ADNP (currently ~17/80 worldwide). Brain magnetic resonance imaging demonstrated mild generalized cerebral volume loss with reduced posterior white matter. AD is non-verbal, communicating with signs and word approximations. She continues to make slow but forward developmental progress, and her case teaches newly diagnosed children within the ADNP Kids Research Foundation.

conclusionThis case study emphasizes the importance of diagnosis and describes, for the first time, early motor intervention therapies. Detailed developmental profile of selected cases leads to better treatments.

Indexed as

activity-dependent neuroprotective proteinautism spectrum disordercase studymotor delaysmutationnonsense

Identifiers

PMID28579975
PMCPMC5437153

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.