Table 2.
Genomic sister-disorders categorized into two groups, each of which shares a suite of partially overlapping phenotypic traits
| Psychotic-spectrum syndromes | Autistic-spectrum syndromes |
|---|---|
| Smith–Magenis | Potocki–Lupski |
| High levels of sociability (Smith et al. 1998; Sarimski 2004) | High rates of autism and autistic behavior (Moog et al. 2004; Potocki et al. 2007) |
| Relative strength in verbal skills (Dykens et al. 1997) | |
| Case reports of ‘bipolar episodes’ (Girirajan et al. 2006) | |
| Case report of mood disorder (Bersani et al. 2007) | |
| Velocardiofacial | Velocardiofacial-region duplications |
| Better verbal than visual–spatial skills (Bearden et al. 2001; Lajiness-O'Neill et al. 2006) | Hyperactivity, attention deficits, anxiety, depression, seizures, speech problems, impulsivity (Ensenauer et al. 2003; Yobb et al. 2005; Alberti et al. 2007) |
| High rates of schizophrenia, schizoaffective disorders, bipolar, depression, anxiety, phobia (Gothelf 2007) | Case report of autism (Mukaddes and Herguner 2007) |
| Case report of Asperger syndrome (Hassed et al. 2004b) | |
| Two cases of autism (Marshall et al. 2008) | |
| Two cases of autism (Christian et al. 2008) | |
| Williams | Williams-region duplications |
| Better verbal than visual–spatial skills (Vicari et al. 2004) | Severe language impairment, visual-spatial skills spared (Berg et al. 2007) |
| Hypersociability, fascination with faces (Doyle et al. 2004) | High rates of autism and autistic behavior (Berg et al. 2007; Depienne et al. 2007) |
| Dyslexia (Temple 2006) | |
| High rates of anxiety and phobias (Meyer-Lindenberg et al. 2006; Lincoln et al. 2007) | |
| Klinefelter | Turner |
| Dyslexia (Geschwind et al. 2000) | Hyperlexia (Temple and Carney 1996) |
| Poor verbal skills, preserved visual- spatial skills (Money 1993; DeLisi et al. 2005) | Good verbal skills, impaired visual- spatial skills (Money 1993; Kesler 2007) |
| High rates of schizophrenia, schizoaffective disorder, schizotypy, bipolar disorder, anxiety, depression (DeLisi et al. 2005; van Rijn et al. 2005; Boks et al. 2007)* | Gaze aversion (Lawrence et al. 2003) |
| High rates of autism and autistic traits in maternal-X cases (Skuse et al. 1997) | |
| Reduced incidence of schizophrenia plus bipolar disorder (Mors et al. 2001) | |
| Idiopathic schizophrenia | Idiopathic autism |
| Low birth weight (Wahlbeck et al. 2001; Nilsson et al. 2005) | High or average birth weight (Sacco et al. 2007;Mraz et al. 2007; Sugie et al. 2005) |
| Slow growth (Niemi et al. 2005) Small head, brain size (Gur et al. 2007) | Overgrowth, faster body growth (Dissanayake et al. 2006; Mills et al. 2007; Mraz et al. 2007; Fukumoto et al. 2008) |
| Better verbal than visual–spatial skills (Kravariti et al. 2006) | Macrocephaly (Lainhart et al. 2006; Stanfield et al. 2008) |
| Dyslexia (Bersani et al. 2006; Revheim et al. 2006) | Hyperlexia (Newman et al. 2007) |
| Overlap in genetic basis with bipolar disorder, major depression, and schizotypy (Craddock and Forty 2006; Van Den Bogaert et al. 2006; Blackwood et al. 2007; Fanous et al. 2007; Potash 2006 | Better visual–spatial than verbal skills in subset of cases (Caron et al. 2006) |
‘Psychotic-spectrum’ syndromes involve an increased incidence of psychotic-spectrum psychiatric conditions (mainly schizophrenia, schizoaffective disorder, bipolar disorder, depression, anxiety, and phobias), and ‘autistic-spectrum’ syndromes involve autistic traits, autism and Asperger syndrome.
*
Two case studies have described autism or autism-spectrum disorders (PDD-NOS) in Klinefelter individuals (Jha et al. 2007; Merhar and Manning-Courtney 2007). These cases were characterized by speech delay and introversion, with no evidence of restricted interests or motor stereotypies in the four children described.