Table I.

Overlapping Phenotypes and Assessment Tools

Class	Description	Measurement
DSM-IV-TR criteria #3 for  autistic disorder	Restricted repetitive & stereotyped patterns of behavior,  interests, and activities At least one of the following: • Encompassing preoccupation with 1+ stereotyped and  restricted patterns of interest that is abnormal either in  intensity or focus • Apparently inflexible adherence to specific,  nonfunctional routines or rituals • Stereotyped and repetitive motor manners (e.g. hand or  finger flapping or twisting, or complex whole-body  movements) • Persistent preoccupation with parts of objects	Autism Diagnostic Interview-Revised [Lord et al., 1994]: R1. Encompassing preoccupation or circumscribed pattern  of interest R2. Apparently compulsive adherences to nonfunctional  routines or rituals (e.g. verbal or nonverbal  compulsions/rituals) R3: Stereotyped and repetitive motor mannerisms including  hand and finger mannerisms or other complex  mannerisms R4: Preoccupations with part-objects or nonfunctional  elements of materials (e.g. repetitive use of objects &  unusual sensory interests) Autism Screening Questionnaire [Berument et al., 1999]:  Eight items loaded on a single factor: Repetitive used objects;  Unusual sensory interests; Compulsions and  rituals; Unusual preoccupations; Use of other’s body to  communicate; Complex body mannerisms; Unusual  attachment to objects; and Circumscribed interests Repetitive and Stereotyped Movement (RSM) Scales  [Wetherby & Morgan, 2007]: Direct observation: RSM with body: Flaps; Rubs Body; Pats Body; and/or  Stiffens body parts and postures; RSM with Objects; Restricted preoccupation in intensity or  focus with restricted interest; Swipes; Rubs/Squeezes;  Rolls/Knocks Over; Rocks/Flips; Wobbles; insists on  sameness or difficulty with change in activity; Collects;  Moves/Places; Lines up/Stacks and/or Clutches Repetitive Behavior Scale—Revised [RBS-R, Bodfish et al., 2000]:  Questionnaire completed by parent, teacher or  caregiver, five empirical derived subscales: Stereotyped behavior; Self-injurious behavior; Compulsive  “just-right” behavior; Ritualistic/ sameness; and  Restricted interests
Obsessive–compulsive  behaviors within  pervasive developmental  disorders	• From an obsessive–compulsive disorder symptom  instrument, investigators adapted the “compulsions”  portion of the Y-BOCS symptom checklist • Symptoms that most closely resemble the repetitive  behaviors seen in ASD include: ordering and arranging,  counting, doing and redoing often prompted by sensory  phenomena urges, and rituals associated with sleep-  wake transitions, separation from attachment figures, as  well as habits associated with dressing and grooming;  ordering and arranging; and collecting	Children’s Yale-Brown Obsessive Compulsive Scale for  Pervasive Developmental Disorders [CY-BOCS-PDD, Scahill et al., 2006]: The same nine categories of compulsions are present in  both the CY-BOCS & CY-BOCS-PDD symptom checklist:  Washing/cleaning; Checking; Repeating rituals;  Counting compulsions; Ordering/arranging; Hoarding/  saving compulsions; Excessive games/superstitious  behaviors; Rituals involving other persons; and  miscellaneous compulsions The content of only two of the CY-BOCS categories were  modified for this scale: repeating rituals for the CY-  BOCS-PDD includes: “touching in patterns; rocking;  spinning, twirling, pacing; spinning objects; and  echolalia” Likewise the Miscellaneous Compulsions category for the  CY-BOCS-PDD includes: “Repetitive sexual behavior  (Masturbation, grabbing at crotch)”
Classic  obsessive–compulsive  disorder behaviors	• Obsessive–compulsive disorder is clinically  heterogeneous • There are a variety of obsessive–compulsive dimensions  that are usually prompted by anxious intrusive thoughts  or images or sensory phenomena	Children’s Yale-Brown Obsessive Compulsive Scale [CYBOCS,  Scahill et al., 1997]: This scale is modeled on the original Yale-Brown Obsessive  Compulsive Scale [Y-BOCS, Goodman et al., 1989a,b]  with nine categories of compulsions (see above) It also includes eight categories of obsessions:  Contamination obsessions; Aggressive obsessions;  Sexual obsessions; Hoarding/saving obsessions; Magical  thoughts/superstitious obsessions; Somatic obsessions;  Religious obsessions; and Miscellaneous obsessions Dimensional Yale-Brown Obsessive Compulsive Scale [DY-BOCS, Rosario-Campos et al., 2006]: This scale specifically rates the severity of  obsessive–compulsive (OC) symptoms within multiple  symptom dimensions Recent large-scale meta-analysis of data from more than  5,000 individuals provides the clearest picture of data of  the inter-relationship of these symptom dimensions  [Bloch et al., 2008a] The four factors validated by this meta-analysis are  included in the DY-BOCS: (Factor I) FORBIDDEN THOUGHTS—Aggressive, sexual,  religious, and somatic obsessions and checking  compulsions; (Factor II) SYMMETRY—Symmetry obsessions and  repeating, ordering and counting compulsions; (Factor III) CLEANING—Cleaning and contamination; (Factor IV) HOARDING—Hoarding obsessions and  compulsions. The Miscellaneous obsessions and  compulsions were not included in these analyses
Normative repetitive  behaviors	• Mental age dependent multidimensional rituals  associated with: sleep-wake transitions, separation from  attachment figures, as well as habits associated with  dressing and grooming; ordering and arranging; and  collecting • The content of many of these items resembles the  symptom dimensions that are commonplace in pediatric-  onset as well as adult onset OCD: worries about harm and  separation; ordering and arranging; contamination  worries and collecting	Childhood Routine Inventory: [CRI, Evans et al., 1997]: 19  items, parental report: Prefer to have things done in a particular order or in a  certain way (i.e. is he/she a “perfectionist?”); Very  attached to one favorite object? Very concerned with  dirt, cleanliness or nearness? Arrange objects, or perform  certain behaviors until they seem “just right” to him/  her? Have persistent habits? Line up objects in straight  lines or symmetrical patterns? Prefer the same  household schedule or routine every day? Act out the  same thing over and over in pretend play? Insist on  having certain belongings around the house “in their  place”? Repeat certain actions over and over? Have  strong preferences for certain foods? Like to eat food in  a particular way? Seem very aware of, or sensitive to how  certain clothes feel? Has a strong preference for wearing  (or not wearing) certain articles of clothing? Collect or  store objects? Seem very aware of certain details at  home (such as flecks of dirt on the floor, imperfections  in toys and clothes)? Strongly prefer to stick to one  game or activity rather than change to a new one? Make  requests or excuses that would enable him/her to  postpone going to bed? Prepare for bedtime by engaging  in a special activity or routine, or by doing or saying  things in a certain order or certain way?