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An Interview With A Developmental Disabilities Nurse

For my first interview, I thought I’d interview someone who would tolerate my novice interviewing abilities — my mother. Ginny, RN, BS, DDRN has been a nurse for over 30 years, most of that time in the Intensive Care Unit. (The apple did not fall far, did it?) She currently works as Developmental Disabilities Nurse and has done so for nine years.

A developmental disability is defined by Wikipedia as a term used in the United States and Canada to describe life-long disability attributable to mental and/or physical impairments, manifested prior to age 18.” Ginny says that her clients have a range of mental and physical disabilities including cerebral palsy, Down Syndrome, mental retardation, and autism, with autism being the most prevalent. Her clients live in normal houses along with nurse’s aides and “direct support professionals” (DSPs).

How did you get started as a Developmental Disability Nurse?

A friend encouraged me to come work with her after I lost my job when they closed the children’s home where I had been working.

Do you like it?

I have had other nursing jobs including med-surg, peds, ICU, factory nurse, WIC nurse, children’s home nurse, and finally this job. I have liked all of my jobs but this has been the most rewarding. The people I care for just love it when the nurse comes around. There is always a “thank you” in their eyes.

What frustrates you about your job?

It is, of course, a job which requires state controls. Their idea of “nursing” is an awful lot of useless paperwork that makes no sense to me. The pay is not commensurate with other nursing jobs considering the reponsibilites of delegating nursing tasks to laypersons. There are so many things these people need and it’s hard to get. There are so many state mandates that are designed to move people toward being as independent as possible but the mandates also make us take many steps backward in that process. Read more »

*This blog post was originally published at code blog - tales of a nurse*

Apple’s Steve Jobs On The iPad’s Use By Kids With Special Needs

In a Wall Street Journal profile on how iPad apps are being used by special needs children, such as those who have speech impediments and as a communication tool — Steve Jobs commented on how even he did not have the foresight to see that the iPad could be used in such a fashion.

“We take no credit for this, and that’s not our intention,” Mr. Jobs said, adding that the emails he gets from parents resonate with him. “Our intention is to say something is going on here,” and researchers should “take a look at this.”

Last year we reported on how how much cheaper Apple’s portabile devices were compared to the traditional speech software/hardware products, and how insurance companies were hesitant to reimburse for a significantly cheaper Apple products verse industry products. At the time of our report, insurance companies were willing to reimburse up to $8,000 for a product that could be replaced by an iPod Touch with speech therapy apps would cost approximately $600. Since our report on the topic last year, not much has changed. Read more »

*This blog post was originally published at iMedicalApps*

Absence Of Fetal Nasal Bone Is A Marker For Down Syndrome

Patient question about “Amniocentesis is Not Without Risk”:

I am 29 years old and am 21 weeks along. I just had an ultrasound a couple of days ago and was told that the nasal bone is not showing up which puts me at higher risk for a baby with Down Syndrome. I have yet to have someone tell me how much of an increased risk. I did not have the 1st trimester screenings as I’ve always said that it wouldn’t make any difference but now that it’s staring me in the face I am seriously considering an amniocentesis. I just wonder if I can go through the next 19 weeks wondering. Can you tell me what my risk is for a Down Syndrome baby? Thank you.

Previously we published a post that discussed the role of assessment of the fetal nasal bone in first trimester screening for fetal chromosomal abnormalities and, in particular, screening for Down syndrome (trisomy 21). Confirmed absence of the fetal nasal bone in first trimester has been correlated with a detection rate for Down syndrome in the range of 70% (with false positive rates dependent on maternal ethnicity – 2.2% in causcasians; 5% in Asians; and 9% in Afro-Carribeans) (Cicero, et al. Ultrasound Obstet Gynecol. 2003;21:15–18; Prefumo, et al., BJOG 2004; 111:109–112). Although determining the presence or absence of the nasal bone can clearly contribute to the risk assessment in first trimester, unfortunately, the technical difficulty of reliably obtaining an image and accurately interpreting the findings have led to more restricted use here in the U.S., even at many major academic centers.

In contrast, in midtrimester genetic screening, often done at 18-20 weeks, the finding of an absent nasal bone and to a lesser degree a hypoplastic nasal bone, is becoming more widely recognized as a major ‘marker’ for trisomy 21. In midtrimester, complete absence of the fetal nasal bone occurs in about one-third of Down syndrome babies. If a ‘short’ nasal bone (nasal bone hypoplasia), is included in the evaluation, 60% or more fetuses with Down syndrome may be detected, again with false-positive rates depending on ethnicity and the variable cut-off values for defining a “short nasal bone” in different studies (Bromley; et al., J Ultrasound Med 2002; 21:1387–1394; Bunduki; et al., Ultrasound Obstet Gynecol 2003; 21:156–160; Lee, et al., J Ultrasound Med 2003; 22:55–60; Gamez, et al., Ultrasound Obstet Gynecol 2004; 23:152–153).

One small study using 3D ultrasound found an absent nasal bone in 9 of 26 babies with Down syndrome (34.6%) and only 1 of 27 (3.4%) chromosomally normal babies, but this also meant that 9 of the 10 (90%) babies in whom complete absence of the nasal bone was found had Down syndrome (Goncalves, et al., J Ultrasound Med 2004;23:1619-27). In a recent study of 4373 babies evaluated in midtrimester, complete absence of the nasal bone was found in about 30% of Down syndrome and only 1% of chromosomally normal fetuses . (Odibo; et al., Am J Obstet Gynecol 2008;199:281.e1-281.e5). Nasal bone hypoplasia, defined in this study as <0.75 MoM, identified 47% of Down syndrome pregnancies and occurred in 6% of normal pregnancies.

So, to our reader, I cannot give a precise estimate of increased risk based on the ultrasound findings you report. However, if the ultrasound was performed by an experienced examiner and adequate images were obtained for evaluation, the complete absence of a fetal nasal bone at 21 weeks, even as an isolated finding, is disconcerting. The risk for Down syndrome could be as high as 90% and the false positive rate 5% or less. And, if you really need to know whether or not your baby is affected, an amniocentesis would be the best way to get that information. Best wishes and please let us know what you find out.

Dr T

This post, Absence Of Fetal Nasal Bone Is A Marker For Down Syndrome, was originally published on by Kenneth Trofatter, M.D., Ph.D..

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