FRAGILE X SYNDROME
Fragile X syndrome is an inherited disorder caused
by a trinucleotide repeat expansion of DNA on the X
chromosome. This expansion results in the absence
or severe deficiency of the FMR1 protein (FMRP),
which is known to be essential for normal brain func-
tion. FMRP appears to have an RNA-binding activity
and may play an important role in synaptic matura-
tion. Approximately 1 per 4,000 males and 1 per
6,000 females are affected. Males with Fragile X syn-
drome typically have moderate to severe mental re-
tardation, which may be accompanied by
hyperarousal or autisticlike behavior. Physical fea-
tures include large ears, large testicles, and loose con-
nective tissue. Females are more mildly affected;
about one-third develop normally, one-third exhibit
mild learning disabilities, and one-third have mild
mental retardation. Carriers, approximately 1 per
260 women, are typically unaffected, and the risk of
expansion to the full disorder increases with succes-
sive generations. Identification using DNA analysis of
blood is highly accurate but must be specifically re-
quested, and thus many cases go undiagnosed.
See also: BIRTH DEFECTS; DEVELOPMENTAL
DISABILITIES; GENOTYPE; PHENOTYPE
Bibliography
Bailey, Donald B., and David Nelson. ‘‘The Nature and Conse-
quences of Fragile X Syndrome.’’ Mental Retardation and De-
velopmental Disabilities Research Reviews 1 (1995):238–244.
Hagerman, Randi J., and Amy Cronister. Fragile X Syndrome: Diag-
nosis, Treatment, and Research, 2nd edition. Baltimore: Johns
Hopkins University Press, 1996.
Mazzacco, Michelle M. ‘‘Advances in Research on the Fragile X
Syndrome.’’ Mental Retardation and Developmental Disabilities
Research Reviews 6 (2000):96–106.
Don Bailey
FREUD, SIGMUND (1856–1939)
Sigmund Freud was born Sigismund Schlomo Freud
on May 6, 1856, in Freiburg, Moravia, which later be-
came the Czech Republic. As the founder of modern
psychoanalysis, Freud was to change the conceptions
of human mental life by showing that many seemingly
illogical, unconscious psychological processes ig-
nored by contemporary conventional science are
powerful influences shaping human beings across the
lifespan, including day-to-day actions, attractions,
and avoidances.
Freud entered the University of Vienna in 1873
at age seventeen to study medicine. He studied the
humanities for his first year and read philosophy
widely (admiring Ludwig Feuerbach), which validated
his reservations about the specialized study of medi-
cine. Freud worked in Carl Claus’s laboratory in Vien-
na (a propagandist of Darwin) and saw himself as an
‘‘intellectual researcher into nature’’ (Gay 1998).
Freud completed his education at the University of
Vienna in 1881 at the age of twenty-five. His educa-
tion continued when, as a trained neurologist, he
studied under the tutelage of eminent mentors such
as Ernst Brucke, a famous physiologist, and Theodore
Meynert, a brain anatomist and psychiatrist.
Freud’s innovation in the field of human mental
health was to give a developmental account of a
dynamic, embodied mind in which unconscious pro-
cesses played a determining role. Freud was an evolu-
tionary naturalist. He saw humans as Oedipal apes,
driven to survive and reproduce; and as cultural crea-
tures, born more dependent than most animals into
nuclear families, capable of identifying with those we
love and of internalizing parental sanctions and
ideals. This legacy has informed child development’s
concerns with the quality of parent-child interactions
and the acquisition of abilities and morality alike.
Freud used clinical methods and observation
since his theory suggests bias may arise in self-report
due to defensiveness where impulses or thoughts con-
flict with morals. His case study method privileged
the unique in-depth study of an individual; his theory
development on this basis showed his equal commit-
ment to generality, to discovering lawlike patterns.
Privileging the early years as formative of personality
(even where individuals may consciously recollect
very little of them), his clinical work revealed the ac-
tive contribution of the child to development. His es-
says on infantile sexuality in 1905 (which posited an
active infantile sexuality that could scarcely be coun-
tenanced in his late-nineteenth-century culture) sug-
gested personality was shaped by the pattern and
quality of parental attendance to a child’s bodily and
affectional needs. He never renounced his conviction
that drives—the most prominent of which in his early
thought was the sex drive—were the impetus for
much of our mental life.
Having studied hysteria with Jean Charcot at the
Salpêtrière, a pathological laboratory in Paris (1885–
1886), Freud went on to reveal how some bodily
symptoms were psychological in origin (i.e., psycho-
genic). Wishes, losses, conflicts, of which humans may
consciously know very little, may be expressed as
dreams, physical symptoms, inhibitions, wordless
anxieties, slips of the tongue, and bungled actions.
His work with Josef Breuer in 1895 displaced hypno-
sis with the use of the ‘‘talking cure,’’ where uncon-
scious conflicts were traced via free association,
whereby the patient said anything that came to mind
without self-censorship. The talking cure was supple-FREUD, SIGMUND 155