Brain Development: Normal Processes and the Effects of Alcohol ...
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126 ETHANOL-AFFECTE D DEVELOPMENT<br />
ing organogenesi s (U S Departmen t o f Healt h an d<br />
Human Services , 2000; see Chapter 17) . In practice,<br />
assessment <strong>of</strong> <strong>the</strong>se anomalies is complicated b y variance<br />
associate d wit h ag e an d ethnicity . Whe n af -<br />
fected individual s are followe d ove r childhoo d int o<br />
early adulthood, som e o f <strong>the</strong> individua l features tha t<br />
are salien t durin g infanc y <strong>and</strong> earl y childhoo d be -<br />
come harde r t o identify , particularl y afte r pubert y<br />
(Streissguth, 1997) .<br />
Several different "systems " <strong>of</strong> diagnosis are use d i n<br />
clinical diagnosi s an d researc h o n FAS . Astle y an d<br />
Clarren (2001 ) have propose d a syste m tha t focuse s<br />
on "sentine l features, " whic h <strong>the</strong> y hav e identifie d<br />
through analysi s <strong>of</strong> a large sample o f children wh o applied<br />
for diagnostic services. In this large clinical sample,<br />
severa l facia l feature s hav e bee n foun d t o b e<br />
associated with <strong>the</strong> diagnosi s at each stag e <strong>of</strong> development.<br />
Thes e feature s ar e (1 ) a n absen t o r indistinc t<br />
philthrum, (2 ) a thinne d uppe r vermillion , an d<br />
(3) shortene d palpebra i fissures . I n <strong>the</strong>i r four-digi t<br />
code metho d for diagnosis, <strong>the</strong>se facia l features constitute<br />
on e dimensio n necessar y fo r diagnosi s (Astley ,<br />
2004). O<strong>the</strong> r dimension s ar e growt h (les s than thir d<br />
percentile), materna l alcoho l use , an d evidenc e o f<br />
CNS involvement.<br />
The Collaborativ e Initiativ e o n Feta l Alcoho l<br />
Spectrum Disorders , sponsored b y <strong>the</strong> Nationa l Insti -<br />
tute o n <strong>Alcohol</strong>is m an d Alcoho l Abuse , ha s devel -<br />
oped a Dysmorphia Core Physica l Exam that i s used<br />
in international studies to diagnosis participants <strong>of</strong> all<br />
ages <strong>and</strong> ethnicities (Ma y et al, 2000; Hoyme e t al,<br />
2005). Thi s method , develope d b y Jone s an d col -<br />
leagues (1973) , i s based o n th e origina l description s<br />
<strong>of</strong> FAS <strong>and</strong> i s a modification o f <strong>the</strong> criteri a <strong>of</strong>fered b y<br />
<strong>the</strong> Institute <strong>of</strong> Medicine (Stratto n et al, 1996) . As in<br />
o<strong>the</strong>r systems , th e chil d i s measured an d examine d<br />
for physica l an d facia l anomalies , a s well a s height ,<br />
weight, head circumference , <strong>and</strong> heart <strong>and</strong> neurolog -<br />
ical problems . The n a determinatio n i s made a s t o<br />
whe<strong>the</strong>r th e chil d ca n b e rate d a s (1 ) havin g FAS ,<br />
(2) not having FAS, or (3) deferred. The classification<br />
"deferred" indicate s tha t som e characteristic s ar e<br />
present bu t tha t <strong>the</strong> diagnosi s cannot b e mad e with -<br />
out mor e information (e.g., neurodevelopmental tes t<br />
results). Thi s methodolog y ha s bee n use d i n Russi a<br />
<strong>and</strong> Sout h Afric a as well as <strong>the</strong> Unite d State s (Hoym e<br />
et al, 2005).<br />
Coles an d colleague s (Fernh<strong>of</strong>f e t al., 1980 ; Black -<br />
ston e t al , 2004 ; Lync h e t al. , 2004 ) hav e use d a<br />
slightly differen t methodology . I n a longitudinall y<br />
followed exposur e sample report , a dose-response pattern<br />
between alcohol exposur e <strong>and</strong> physical characteristics<br />
can be identified both in <strong>the</strong> neonatal perio d <strong>and</strong><br />
later i n development. Th e sam e dysmorphi c features,<br />
however, ar e no t alway s salien t ove r development .<br />
Ra<strong>the</strong>r, it is <strong>the</strong> total "dysmorphia score" that is reliable<br />
from infanc y through middle adolescence. Mor e longitudinal<br />
research is needed t o determine th e continuity<br />
<strong>of</strong> physica l characteristics , particularl y facia l anom -<br />
alies, to provide guidelines for making <strong>the</strong> diagnosis in<br />
older childre n <strong>and</strong> adults . This kind <strong>of</strong> research i s important<br />
als o because <strong>the</strong>re may be ethnic differences in<br />
facial characteristics that can affect diagnosis. Finally, it<br />
is necessar y t o us e a longitudina l approac h becaus e<br />
use o f clinical sample s in a cohort desig n exaggerates<br />
<strong>the</strong> salienc e o f feature s tha t ar e expecte d t o b e par t<br />
<strong>of</strong> th e criteri a an d ignore s individuals whose features<br />
are not consistent with <strong>the</strong>se expectations .<br />
Effect <strong>of</strong> <strong>Alcohol</strong> Exposur e<br />
on Growt h<br />
Growth retardatio n is useful fo r <strong>the</strong> identificatio n <strong>of</strong><br />
FAS during infanc y an d th e preschoo l period , but i t<br />
is les s consistentl y eviden t i n olde r childre n an d<br />
youth (Streissguth , 1997 ; Cole s et al, 2002). It is difficult<br />
t o evaluat e thi s facto r i n clinica l sample s<br />
because th e argumen t i s necessaril y circular . Thi s<br />
criterion i s use d i n makin g a clinica l diagnosis ,<br />
hence suc h individual s ar e necessaril y growt h re -<br />
tarded. Expose d individual s who presen t fo r diagno -<br />
sis do no t receiv e i t i f <strong>the</strong>y ar e no t growt h retarded .<br />
Long-term follow-u p o f childre n identifie d earl y i n<br />
life i s necessary to confirm persistent growth deficits .<br />
For thi s reason , exposur e studie s provid e a bette r<br />
method fo r evaluatio n o f thi s outcome . Generally ,<br />
children expose d t o alcohol appea r to be statistically<br />
smaller tha n control s o r tha n nationa l norm s (Da y<br />
et al, 1999 , 2002) . Ofte n mean s ar e within norma l<br />
ranges, however , s o althoug h thi s characteristi c i s<br />
statistically "real, " i t ma y o r ma y no t b e o f clinical<br />
significance, <strong>and</strong> i t is not necessaril y helpful in iden -<br />
tification o f specifi c individual s if prenatal alcoho l<br />
exposure i s no t known . I t i s no t ye t establishe d<br />
whe<strong>the</strong>r lowe r birt h weight , height , an d hea d cir -<br />
cumference associate d wit h prenata l alcoho l expo -<br />
sure (<strong>and</strong>, perhaps, associate d polydrug use) are ris k<br />
factors for o<strong>the</strong>r conditions occurring later in life .