Pattern of Growth and Characteristics of Down Syndrome Pediatrics Patients

Pattern of Growth and Characteristics of Down Syndrome Pediatrics Patients Attending Assuit University Children Hospital

Down syndrome or Down's syndrome (DS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The parents of the affected individual are usually genetically normal. The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45 .

Study Overview

• Status: Not yet recruiting
• Conditions: Growth Disorders

Detailed Description

People with DS may have some or all of these physical characteristics: a small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, and a protruding tongue due to a small mouth and relatively large tongue. Other features include: a flat and wide face, a short neck, excessive joint flexibility, extra space between big toe and second toe, abnormal patterns on the fingertips and short fingers. Short stature is a characteristic feature of DS. Growth retardation of DS individuals starts prenatally. After birth, the growth velocity is most reduced between 6 months to 3 years . Growth charts specific for children with DS are important tools for routine medical follow-up, as well as early identification of pathological causes of growth retardation, and monitoring of growth promoting treatments. Growth charts for DS are available from different countries, for example, Italy, USA, Denmark, Sweden, Portugal, France, UK and Ireland and Saudi Arabia .

• Study Type: Observational
• Enrollment (Anticipated): 50

Contacts and Locations

• Study Contact: Name: Dalia Galal Mahran, Professor; Phone Number: 01007120821; Email: daliaym2001@yahoo.com
• Study Contact Backup: Name: Hekma Saad Farghaly, Professor; Phone Number: 01091251040; Email: hekmafarghly73@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 6 months (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

1. Inclusion criteria:

   All Down syndrome children attending Assuit university less than four years with or without cardiovascular .

2. Exclusion criteria:

Any Down syndrome child more than four years. This is a descriptive case series study.

Description

Inclusion Criteria:

• All Down syndrome children attending Assuit university less than four years with or without cardiovascular.

Exclusion Criteria:

• Any Down syndrome child more than four years.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Other

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Down syndrome less than four years Group

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The pattern of growth in Down syndrome patients	Descriptive case series study	6 months

Collaborators and Investigators

• Sponsor: Assiut University

Publications and helpful links

General Publications

• Morris JK, Mutton DE, Alberman E. Revised estimates of the maternal age specific live birth prevalence of Down's syndrome. J Med Screen. 2002;9(1):2-6. doi: 10.1136/jms.9.1.2.
• Perkins JA. Overview of macroglossia and its treatment. Curr Opin Otolaryngol Head Neck Surg. 2009 Dec;17(6):460-5. doi: 10.1097/MOO.0b013e3283317f89.
• Malt EA, Dahl RC, Haugsand TM, Ulvestad IH, Emilsen NM, Hansen B, Cardenas YE, Skold RO, Thorsen AT, Davidsen EM. Health and disease in adults with Down syndrome. Tidsskr Nor Laegeforen. 2013 Feb 5;133(3):290-4. doi: 10.4045/tidsskr.12.0390. English, Norwegian.
• Sara VR, Gustavson KH, Anneren G, Hall K, Wetterberg L. Somatomedins in Down's syndrome. Biol Psychiatry. 1983 Jul;18(7):803-11. No abstract available.
• Piro E, Pennino C, Cammarata M, Corsello G, Grenci A, Lo Giudice C, Morabito M, Piccione M, Giuffre L. Growth charts of Down syndrome in Sicily: evaluation of 382 children 0-14 years of age. Am J Med Genet Suppl. 1990;7:66-70. doi: 10.1002/ajmg.1320370712.
• Patterson D. Molecular genetic analysis of Down syndrome. Hum Genet. 2009 Jul;126(1):195-214. doi: 10.1007/s00439-009-0696-8. Epub 2009 Jun 13.
• Weijerman ME, de Winter JP. Clinical practice. The care of children with Down syndrome. Eur J Pediatr. 2010 Dec;169(12):1445-52. doi: 10.1007/s00431-010-1253-0. Epub 2010 Jul 15.

Study record dates

Study Major Dates

• Study Start (Anticipated): October 1, 2021
• Primary Completion (Anticipated): March 31, 2022
• Study Completion (Anticipated): April 30, 2022

Study Registration Dates

• First Submitted: September 15, 2021
• First Submitted That Met QC Criteria: September 15, 2021
• First Posted (Actual): September 24, 2021

Study Record Updates

• Last Update Posted (Actual): September 24, 2021
• Last Update Submitted That Met QC Criteria: September 15, 2021
• Last Verified: September 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Down Syndrome; Growth Disorders
• Other Study ID Numbers: PogacoDsppaAuch

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No