11q+deletion+disorder,+Jacobsen+syndrome

Please use this wiki to compile resources, links, and files related to your final project case study. You may use and organize this wiki however you wish, but please note that the following items are required:
 * Information about the child's diagnosis
 * Evidence-summary table and links to articles, websites, abstracts, etc (from the Nov 16 EBP lab) on a clinical question of your choice (related to the child's diagnosis, condition, limitations, and/or restrictions)
 * Educational material of your choice (such as a brochure, home exercise program, inservice presentation) related to the child's diagnosis, condition, restrictions/limitations

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=Jacobsen Syndrome=

Jacobsen Syndrome is also known as 11q deletion disorder, which is a more descriptive name for the pathophysiological component of this rare congenital disorder. There are thought to be only approximately 200 cases world wide. It is not conclusively known if the cause of deletion to the terminal region of chromosome 11 is due to a genetic/familial link or if the deletion is simply spontaneous, but both are believed to at least play a part.

There are varying degrees of severity in the physical disorders and intellectual disabilities that result. Typical physical issues that result include: heart defects, bleeding disorders, generalized weakness/hypotonia, skeletal (facial) dysplasia, wide-set eyes, ptosis, ocular motor control or other vision problems, short/upturned nose with anteverted nostrils, thin lips, hammer toes. Also common is significan developmental delay (both physically and intellectually), possibly due to significant feeding difficulty that is present especially in the first 24 months of life. Intellectual difficulties include: mild to moderate learning disabilities, decreased attention span and behavioral issues - all of which often lead to delays and/or impairs speech or general ability to communicate.

For children that don't make it past the neonatal period, death is usually due to severe heart deformities and bleeding. The larger portion of children do make it past infancy, though life expectancy is currently unknown. The oldest known living patient with JS was 45 years old in 2009.

The pdf below is a great reference that gives more detailed information as to pathology, methods of detection & diagnosis, common presentations & conditions that result from this disorder. It is a great educational tool not only for clinicians but also patient family members. ==

**__Symptoms__**

 * Growth and Appearance:
 * Most children are short for their age
 * Low set ears,
 * Pointed forehead (trigonocephaly),
 * Wide set eyes
 * Broad bridge of the nose,
 * A smaller lower jaw
 * Small head
 * Droopy eyelids (ptosis)
 * Down turned corners of the mouth


 * Medical concerns
 * Congenital Heart disease - a hole between the two chambers (Ventricular Septal Defect), or Left Ventricular Hypoplasticity
 * Mild to severe mental retardation
 * Hypotonia
 * Plyoric stenosis
 * Kidney defects
 * Vision issues
 * Thrombocytopenia ( Paris-Trousseau)


 * Developmental Delays
 * Most children learn more slowly
 * Speech emerges late
 * Some can become very fleunt, while others are able to understand language but not express it.
 * Motor milestones are delayed but usually reached.
 * Fine motor and hand eye coordination develop late.

Video interview with a family who's child has Jacobsen Syndrome. The video describes some of the difficulties that the family and child face as they cope with this rare genetic disorder.

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A set of videos which features a Norweign Child with Jacobsen Syndrome as he develops. Like other children with Jacobsen Syndrome his Developmental Motor Milestones are delayed.

The child at 14 months, 17months, and 23 months. media type="youtube" key="NZBf_aKtUyw?version=3" height="183" width="328" media type="youtube" key="cVcjqQTJC3o?version=3" height="182" width="327" media type="youtube" key="4-OGRnNh_ww?version=3" height="183" width="328"

__**Normal Developmental Motor Milestones**__
[] Here is a link from the CDC which can be used as a checklist for normal 1 year old milestones; including social, cognitive, physical, and language development.

[] Link to a PDF of a Developmental Milestone assessment that can be used for children under the age of 6. This can be useful for evaluation and goal formation.

__Some Data Presented at the 11q Research and Resource conference.__
Medical Issues (Data 2006/2008 N=29)
 * || **N** || **%** ||
 * Heart Problems || 22 || 75.9% ||
 * Heart Surgery || 7 || 24.1% ||
 * Blood Problems || 25 || 86.2% ||
 * Ever Hospitalized || 22 || 75.9% ||
 * CT Scan or MRI of Brain || 21 || 72.4% ||
 * Seizures || 4 || 13.8% ||
 * Current Meds || 20 || 69.0% ||
 * Feeding or Eating Problems || 22 || 75.9% ||
 * Gastrointestinal Problems || 20 || 69.0% ||
 * Recurring Infections || 21 || 72.4% ||
 * Hearing Problems || 19 || 65.5% ||
 * Vision Problems || 24 || 82.8% ||

Developmental Milestones (Data 2006/2008 N=35) []
 * || **Typical Development** || **Age in Months MN (SD)** || **“Not Yet” N (%)** ||
 * Crawl || 9 || 17.96 (8.13) || 1 (2.9%) ||
 * Eat solid foods || 6 || 17.72 (13.18) || 0 (0.0%) ||
 * Sit up without support || 9 || 13.45 (5.86) || 0 (0.0%) ||
 * Say first word || 12 || 25.30 (11.95) || 0 (0.0%) ||
 * Walk || 12-18 || 28.84 (15.13) || 1 (2.9%) ||
 * Stay dry during the day || 24 || 48.71 (20.22) || 7 (20.0%) ||

=SUMMARY TABLE=

What treatments should be used to address developmental delay exhibited by children with Jacobsen Syndrome?
Services for the Special Health Care Needs of Children with Developmental Delays || 114 children with Developmental delay; 57 receiving hospital based services and 57 receiving community based services. || Survey of parents of children receiving services for DD. Data was collected on child characteristics, disability severity, family/caregiver dynamic, family economic status, child’s need of services & assistive devices and type of treatments received. || More children with DD in hospital-based services had comprehensive illnesses (CP & SCI) and multiple caregivers than community based services. More children with DD in community-based services had severe diagnosis (high intensity of tx needed) than those in hospital-based services. Children in hospital-based services had more need for some items of team assessment and counseling, rehabilitation, and complementary and alternative treatment than those in community-based services. The need for home care was not significantly different between the two services except for nutrition counseling || program was part of a one-group nonrandomized AB design study to determine if the program is successful and whether it should be continued, modified, or abandoned. || The program was successful at improving swimming skills, physical activity levels, cardiopulmonary endurance, and received a high levels of parent satisfaction. It was partially successful at program sustainability. The program had no injuries or adverse effects. || with hippotherapy in children with Down syndrome: Case reports || Two children, age 27 and 38 months at the time of intervention.The physician noted difficulties in balance, learning and cognitive skills. || Case report to describe the impact of an 11-week hippotherapy program on the gross motor functions of two childrendiagnosed with Down syndrome. Hippotherapy uses the horse’s motion to stimulate and enhance muscle contraction and postural control. The children were assessed by the Gross Motor Function Measure (GMFM) and accelerometry. || Power spectral analysis of the acceleration signals showed improvement in postural control of either the head or trunk. The hippotherapy improved their motor performances in fundamental motor skills (walking, running, and jumping). The authors believe that accelerometers could objectively quantify changes in the postural control system during hippotherapy || Full text of the first article in summary table:
 * **AUTHOR** || **SOURCE** || **DATE** || **TITLE** || **SAMPLE** || **METHODOLOGY/ MAIN IDEA** || **RESULTS** ||
 * Mattina, Perrotta, Grossfeld || Orphanet Journal of Rare Diseases, 4:9, 1172-1186 || 2009 || Review: Jacobsen syndrome || 200 published case reports and authors’ experience with 62 children with 11q chromosomal deletions. || Data on clinical findings was gathered from literature reviews of 200 published case reports and direct clinical assessment of 62 children with pure 11q terminal deletions. Data was gathered in an effort to document & clinically assess/Tx this rare condition. || Database for Etiology, Clinical features, Gentoype/phenotype correlation was established, Dx, Differential Dx, & Prognosis info provided. Tx options & suggestions proposed. ||
 * Ying-Syuan Chen, Lin, Chung-Yao Chen 2 ,Chia-Ling Chen <span style="font-family: 'Times-Roman','serif'; font-size: 8px;">3,4 <span style="font-family: 'Times-Roman','serif'; font-size: 17px;">, Wen-Yu Liu <span style="font-family: 'Times-Roman','serif'; font-size: 8px;">3,4 <span style="font-family: 'Times-Roman','serif'; font-size: 17px;">, Liaw,Wu & Hsu || <span style="font-family: 'Times-Roman','serif';">Chang Gung Med J Vol. 33 No. 2 || 2010 || <span style="font-family: 'Times-Bold','serif';">Comparison between Hospital-based and Community-based
 * Fragala-Pinkham, O'Neil, Haley || Disability Health Journal, 3(3):162-70 || 2010 || Summative evaluation of a pilot aquatic exercise program for children with disabilities || Sixteen children, ages 6-12 years, with developmental disabilities participated in the program. || A summative evaluation of a pilot aquatic exercise
 * Danielle Champagne, OT, MSc and Claude Dugas, PhD || Physiotherapy Theory and Practice, 26(8):564–571, 2010 || 2010 || Improving gross motor function and postural control

Resources for Parents:
 * National Association of Parents with Children in Special Euducation []
 * Alliance for Technology Access []
 * 11q Research and Resource Group []
 * A Group Message board for parents, family, and caregivers which provides support, advice, and a place to ask questions.[]

Recommendations for Parents:
 * <span style="font-family: Arial,Helvetica,sans-serif; font-size: 90%;"> All children with Jacobsen syndrome are recommended to have an evaluation of hormone levels by a paediatric endocrinologist. (Low levels of Insulin Growth Factor-1 can lead to shortened stature)
 * <span style="font-family: Arial,Helvetica,sans-serif; font-size: 90%;">It is strongly recommended that all babies with 11q terminal deletion disorder should have a cardiac evaluation and be monitored every three years as some less severe conditions can develop over time.
 * Platelet levels in the blood should be regularly monitored as a majority of those with Jacobsen syndrome have a bleeding disorder Paris-Trousseau.