Tourette’s Syndrome, a complex neurodevelopmental disorder characterized by motor and vocal tics, has intrigued researchers and clinicians for decades. This article explores the intricate world of Tourette’s, offering a multidimensional understanding of its etiology, clinical presentation, psychosocial impact, assessment, treatment, and long-term outcomes. Explored within are the genetic and neurological underpinnings, co-occurring conditions, the intricate
Klinefelter’s syndrome is a male sex chromosome disorder affecting 1 in 500 males across all ethnic groups. Men with Klinefelter’s syndrome possess an additional X chromosome, resulting in a 47,XXY genotype. The additional X chromosome comes from sporadic errors during sperm or egg formation. In an individual with Klinefelter’s syndrome, the extra X chromosome forms
Lesch-Nyhan syndrome is an X-linked recessive inborn error of purine metabolism caused by absence of, or deficiency in, hypoxanthine-guanine phosphoribosyl transferase (HPRT). HPRT metabolizes hypoxanthine and guanine to uric acid. First described in two brothers by Lesch and Nyhan in 1964, the disorder is fortunately rare, occurring in less than 1 in 200,000 births. It
Rape trauma syndrome (RTS) is a topic about which experts testify in legal cases. It is most often used by prosecutors in sexual assault cases to counter a defendant’s claim that the sexual contact in question was consensual. The specific nature of the testimony varies from case to case but often includes a description of
Fragile X syndrome (FXS) is the leading cause of inherited mental retardation. It is caused by a change (mutation) in the fragile X mental retardation 1 (FMR1) gene located near the end of the X chromosome. This change is associated with a broad range of symptoms from speech delay and hyperactivity early in development to
Down syndrome is a chromosomal disorder that affects more than 350,000 U.S. citizens. Down syndrome ranks second to fragile X syndrome as the most frequent genetic cause of mental retardation. Although recognized by Edouard Seguin, a French physician and educator, as early as 1846, the first written description of the disorder was published in 1866
With the arrival of the relatively inexpensive and smokable crack form of cocaine, the rate of newborns exposed to cocaine in utero rose dramatically in the early 1990s. In the mid-1990s it was estimated that 1.1% of pregnant women used crack cocaine. Early reports of neonatal behavioral abnormalities led to the label “crack baby syndrome”
Aspe r g e r syndrome (AS) is the term applied to the mildest and highest functioning end of the autistic (or pervasive developmental disorder [PDD]) spectrum, which ranges from AS to classic autism. People with AS typically display impairments in three areas: social difficulties (i.e., reading social cues, social awkwardness, and poor social skills)
In sports, optimal performance is only achievable if athletes recover after competition. Recovery and intense exercise must also be balanced with everyday life. Additionally, sufficient physiological and psychological recovery protects against overtraining. However, it is just a small step from regular daily practice to a high frequency of demanding events, which complicates the process of