Results of the 1999 ASCA Breed Health Survey First printed in the Aussie Times, Jan-Feb 2002 by C.A. Sharp and Peter Adolphson, on behalf of the ASCA DNA & Genetics Committee Note: The authors apologize to the membership and the Committee for our tardiness in presenting this report. We have each experienced personal difficulties outside the world of dogs that have interfered with finalizing this effort. In the last half of 1999, the Australian Shepherd Club of America conducted its first ever breed health survey. The survey form was published in three consecutive issues of the Aussie Times as well as being made available on the club’s website. It was open to any Aussie owner, without regard to ASCA membership. The following is an analysis of the over-all data set. We hope in the future to take a more detailed look at sub-sets of the data (breeders vs non-breeders, breakdown by ASCA regions, etc.) if time permits. This type of survey cannot provide hard data on specific genetic diseases or inherited faults in the breed. No veterinary documentation of diseases can be provided and respondents are those who feel personally motivated to respond, either through a feeling of duty to the breed or a need to express concern about something that has affected them or their dogs. However, the survey can and does give us an idea of how knowledgeable people are about various conditions and faults and about their experiences with them. It also indicates the relative frequency of problems in the breed. Some results were expected (we knew cataracts were a major problem); others were a surprise (we didn’t expect the number of reports on retained testicles). Who Responded Most respondents, if not breeders, were significantly involved in activities or work with their dogs. This was expected. Those with the most personal investment in their dogs are the ones who will be motivated to respond to a survey of this kind. There were 345 total responses received, 85% of which were from those who stated they were ASCA members. This represents about 4.5% of ASCA’s total membership. 83.7% of the respondents were in the US, 9.6% in Canada and the balance in Europe or Australia. Nearly all of the US respondents were ASCA members, as were slightly over a third of the Canadian respondents. Less than 1% of the European/Australian respondents claimed ASCA membership, which probably reflects the fact that other canine organizations are responsible for the local registry and breed matters in those countries (other than Germany, which utilizes ASCA’s registry.) When responses are compared to actual ASCA member/location statistics for members outside the US, responses were received from nearly half of the European/Australian members and one in 8 Canadian members. This greatly exceeds rate of US member response of fewer than one in 20. The scope of our survey does not allow us to determine whether this reflects greater apathy on the part of US members or that more of them are only peripherally involved in the breed (i.e. have a pet and decided to join, but don’t breed or participate in club programs.) It will be interesting to observe whether the new membership scheme that will be instituted January 1, 2002 leads to different response patterns in any future survey, as persons interested only in subscribing to the Times will no longer have to join and those only interested in utilizing the registry will be non-voting “service” members.. For every respondent that indicated being a breeder or the owner of breeding dogs, there were two who were not. Outside the US, ¾ of respondents were breeders/owned breeding dogs, which reinforces the supposition that low US response may have been at least partly due to larger numbers of US members who are not deeply involved in the breed. Experience in the breed varied from some who had just obtained their first Aussie to one individual who has had Aussies for 41 years. The average involvement in the breed was 11 years (8 in Canada), indicating a high level of breed commitment on the part of respondents. Outside North America the average was 6, no doubt reflecting the Aussie’s “new breed” status in those regions. Respondents owned, on average, 4 adult Aussies, one pup and one dog of another breed. The US and Canada were identical in this regard. European/Australian respondents were more likely to have slightly fewer adult Aussies and one more other-breed dog. Roughly 65% of respondents stated they participated in conformation and/or obedience, 40% in Agility and 30% in stockdog trials. 10% had a commercial agricultural operation in which they used their dogs. Fully 35% were involved in dog-related activities, most often flyball, pet therapy, or tracking. Only two respondents mentioned club work, but that may be because club activity is so integral to intense involvement in dogs that respondents considered it a “given” and didn’t think it required special notation. (This includes the Committee, as when we designed the form we didn’t make a separate listing for it.) The level of dog-related activities in which the respondents take part indicates that they are perhaps more motivated than the “average dog owner” and therefore probably more proactive on health and other issues. In short, the people who responded are those most likely to make a positive difference in matters of breed health. Health Issues Two types of questions regarding health/genetic fault issues were asked. One requested the respondent’s opinion of the severity or frequency of a particular problem. The intention was to gauge knowledge levels and indicate areas of concern, which will help ASCA and its DNA & Genetics Committee pinpoint educational needs. The second question asked how many dogs/litters respondents had produced or owned with each problem. It is acknowledged that the responses to these questions were the opinions of the individuals making them. Several individuals criticized the survey in the “comment” section or during in on-line discussions, for soliciting opinion rather than gathering hard data. However, knowing what people think—be it right or wrong—is important to setting goals and making decisions in our battle with hereditary disease. And, as noted previously, one cannot get “hard data” from this type of survey. In terms of numbers of affected dogs reported, temperament problems were the most frequent. Heart/blood diseases were the least-reported category (see Table 1). All categories, except the heart/blood diseases, were experienced by at least a quarter of the individuals responding. This may be due to a tendency for those who have experienced problems to respond, but the percentage of respondents appears too high to be explained by this alone. Table 1: Frequency by Category Disease/Fault % Reporting # Dogs Affected Temperament Problems 55 1787 Dental Faults 41 1003 Color Faults 52 873 Eye Diseases 38 563 Reproductive Problems 28 371 Immune-Mediated Disease 34 343 Skeletal Defects 26 305 Miscellaneous 26 304 Heart/Blood Disease 2 14 Temperament is a blend of nature and nurture. With the exception of Rage Syndrome, which is a neurological disorder, all the listed problems can be induced or exacerbated by environmental factors. Inexperienced owners may misinterpret the Aussie’s natural high-energy character as “hyperactive” or “obsessive/compulsive.” It will be interesting to see if temperament problems are viewed differently by owners vs. breeders and by those long-experienced with the breed vs. breed novices when future, more detailed, analysis of the data is made. We do feel that the strong response to these items indicates a need for the club , breeders and others who are experienced in this breed to do more to educate the public about what kind of dog the Aussie, what kind of training and socialization i is necessary, and why certain kinds of homes or situations may be inappropriate. Dental and color faults were the next two most frequently reported, possibly because these things are readily distinguished even by inexperienced individuals, where the others require considerable knowledge or veterinary expertise to identify. Certainly the reproductive issues need to be examined more closely in subsequent reviews of the data, excluding those respondents who do not have breeding animals as the significance of these may be greater than it appears in the overall analysis. Table 2 contains a similar view of specific diseases/faults, all of which have been reported in Australian Shepherds. Eight of the 42 listed items had been experienced by at least a quarter of the 345 respondents, though only one of these (allergies) is a disease. The remainder were temperament, bite and color issues as discussed above. Table 2: Frequency by Disease/Fault Disease/Fault % Reporting # Dogs Affected Opinion re: Frequency Actual Frequency* Dilution Spots 45 487 Common   Shyness 38 357 Common   Gun/Thunder/Etc. Shy 37 357 Rare 1   Dropped Incisors 25 274 Rare 1   Dog Agression 32 263 Rare 1   Missing/Extra Teeth 27 261 Common 3 Common Even (Level) Bite 27 250 Rare 1,3 Common Homozygous Merle 21 241 Rare 1   Hip Dysplasia 22 233 Rare 1,2 Very Common Allergies 28 226 Common Very Common Hyperperactive 23 198 Rare 1,2   Iris Coloboma 19 183 Rare 1 Very Common Under/Overbite 21 177 Rare 1,3 Common Cancer 19 167 Rare 1 Very Common Retained Testicles 20 155 Rare Common Non-accepted Colors 16 145 Rare   Cataracts 18 145 Rare 1,2 Very Common Persistent Pupilary Membrane 15 137 Rare 1 Common People Aggression 15 119 Rare   Epilepsy 12 91 Rare 1 Very Common Small Litters 13 90 Rare   Obsessive/Compulsive 11 90 Rare 1   Distichiasis 8 62 Rare 1 Common Poor Mothering Ability 7 50 Rare   Thyroiditis 8 49 Rare 1 Common Generalized Demodecosis 6 46 Rare Common Wry Bite (Anterior Cross-bite) 6 41 Rare Rare Failure to Conceive 6 38 Rare   Osteochondritis Desicans 4 30 Rare Rare Collie Eye Anomaly 3 28 Rare Common Patellar Luxation 3 26 Rare Rare Porto-systemic (Liver) Shunt 2 24 Absent 3 Very Rare Lupus 3 22 Rare Common Pelger-Huet Anomaly 2 22 Rare Very Rare Rage Syndrome 2 12 Rare Very Rare Low Sperm Count 3 22 Rare   Lack of Libido 2 16 Rare   Elbow Dysplasia 2 16 Rare Very Rare Patent Ductus Arteriosus 2 10 Absent Very Rare Progressive Retinal Atrophy 1 8 Rare Very Rare Hemophilia 1 4 Absent 3 Very Rare vonWillebrand's Disease 0 0 Rare Very Rare There were another 14 problems which had been experience by between 10 and 25% of respondents. These included 9 which are diseases or genetic defects. The appearance of low reporting levels may be an artifact of the need for experience or professional evaluation to identify these conditions. It’s easy to detect even minor faults in dentition or color, so large numbers of respondents having recognized them in their dogs is not surprising. However, the fact that more than one respondent in 10 has experienced one or more genetic diseases in their dogs is sobering. Responses to the question asking how common respondents felt a particular thing to be were assigned numerical values of 0 through 4, with 0 being “Absent” and 4 “Very Common.” Means (averages) were established for each and then converted to the category for which the numerical value most closely matched the mean. For example, something with a mean of 2.9 it was “Common,” whereas a mean of 1.4 would have been “Rare.” Overall, respondents felt almost all problems to be “rare” and a few to be “absent,” which does not reflect reality or the fact that significant percentages of them had experienced problems in their own dogs. Only four problems were considered “common,” and of these only allergies is a disease. For reasons that will be explained more fully below, we feel this is an unrealistically optimistic view of breed health. As a single example: Cataracts are the most frequently reported breed health problem (based on a compilation of statistics from several different sources named below) and almost one in five respondents reported having one or more dogs with cataracts, yet as a whole they considered the diseases “rare.” This apparent discrepancy may be attributable to how respondents defined the available selections. We will continue to use cataracts as an example. CERF statistics for 1998-1999 indicate that 4% of Aussies presented had inherited cataracts of the type most commonly seen in the breed (posterior cortical). To the average person, 4% may not seem like much. However it extrapolates into the possibility that at least a third of the breed carries gene(s) for the condition, depending on actual mode of inheritance that is as-yet undetermined in this breed. This is another area where response indicates a need for improved educational effort. By interesting contrast, Canadian respondents considered a number of items to be “common,” including several of the most frequently occurring diseases (see Table 2). European/Australian respondents felt that cataracts, hip dysplasia and hyperactive behavior were common. Severity of Health Impact Respondents were asked to rate each item by how serious a health impact each had on the dog. As with the question regarding frequency, responses were assigned numerical values and means established for each. Most respondents had a fairly accurate assessment of which defects/faults had the greatest impact on health (see Table 3.) Those outside the US listed a number of additional conditions, including several reproductive issues that may have little impact on the health of the affected individual (i.e. infertility), but which could have significant impact on breed health or the over-all health of a kennel or line. This may be reflective of a higher percentage of breeders among respondents from outside the US. Table 3: Severity of Health Impact Diseases/faults considered by to have "extremely serious" health impact Aggression toward people or dogs Cancer Cataract CEA Elbow Dysplasia Epilepsy Hemophilia Hip Dysplasia Homozygous Merles PRA Rage Syndrome Additional conditions considered "extremely serious" by respondents outside the US: Distichiasis Generalized Demodecosis Iris Coloboma Low Sperm Count Lupus OCD Obsessive/Compulsive behavior Pateller Luxation PDA Poor Mothering Porto-sysptemic Shunt Retained Testicles Thyroiditis vonWillebrand's Disease Wry Bite Additional conditions considered "extremely serious" by respondents outside North America: Failure to Conceive Lack of Libido Over/Under Bite PPM Shyness Diseases/faults onsidered to have no health impact: Dilution Spots All other conditions rated as having “somewhat serious” impact on health. These included such obviously cosmetic things as unacceptable colors and those of negligible or nul impact, like dropped incisors or level bites. This was at least partly due to a flaw in survey design that was pointed out to us by several respondents: There should have been a category between “None” and “Somewhat Serious” Frequency of Disease As stated earlier, owners and breeders of Aussies may be overly optimistic about the frequency of hereditary diseases in the breed. Author Sharp recently evaluated statistics from several different sources, including this survey; the survey conducted by Leos Kral, PhD of West Georgia State University in 1997; the breed longevity study conducted by John Armstrong, PhD, of the University of Ottawa (1998-2000) with Sharp’s assistance; CERF statistics for 1998-9; the Veterinary Medical Data Base statistics for the same period; and the data Sharp has personally gathered over the past 20 years. She developed a ranking of various conditions found in Aussies by their relative frequency. (See Table 4). Due to the varied and different sources she drew upon, she does not intend this to be a representation of precise frequency relationships, but a continuum in which any given disease may actually be slightly more or less frequent than those of similar ranking. Things at the top of the list are those most likely to be encountered. Those at the bottom are least likely. Table 4: Relative Frequency of Diseases found in Australian Shepeherds   Frequency per Study: Disease ASCA Kral CERF/ VMDB Sharp Armstrong*   Very Common Cataracts 7 5 1 1 Dental Faults 3 2 15 Auto-Immune Disease 11 4 7 3 5 Hip Dysplasia 2 3 4 6 Epilepsy 9 7 10 2 3 Iris Coloboma 4 8 3 4 Allergies 1 1 2 16 Cancer 6 6 9 1   Common PPM 8 6 Distichiasis 10 8 5 Retained Testicles 5 13 CEA 14 11 11 7   Rare PDA 19 14 5 8 2 OCD 13 12 10 Patellar Luxation 12 9 12   Very Rare Liver shunt 15 9 4 PHA 16 vonWillebrands 21 14 Elbow Dysplasia 18 15 PRA 20 10 Rage Syndrome 17 11 Hemophilia 22 13 17   * The Armstrong study includes lethal conditions only. Not all conditions were addressed in every data set. There were some surprises in the data submitted on affected dogs. Allergies and retained testicles were much more frequently reported than we had expected; Collie Eye Anomaly and Patent Ductus Arteriosus (a heart disease) were reported less frequently. Frequency as reported by survey respondents differed somewhat from Sharp’s combined findings, but are basically similar in that the most frequent things and the rarer things are the same on both lists though ordinal ranking may differ. “I Don’t Know” Perhaps one of the more disturbing observations of the data is the frequency with which respondents stated they did not know if a particular disease/fault had a health impact or whether it was/was not common in the breed. This again reinforces the need to do a better job of educating those who own and breed Australian Shepherds from the national club/member level on down to the breeder/buyer level. Summation The authors intend to examine subsets of the data gathered more closely and report on this in the future. We feel that we have gathered some very useful information about the status of breed health and the knowledge-level of those who own the breed. The survey was not without it’s imperfections, some of which have been mentioned previously. A serious one involved technical difficulties with the on-line version, which limited the ability of some to access it. However, all members received a hard-copy via the Aussie Times. US residents active in the breed who are not ASCA members probably know some who are, so we feel that anyone in the US who wanted to respond could have without too much difficulty. For those outside the US, especially those in Europe/Australia, the technical problems may have limited access for the non-members who make up the majority of the breed owners/breeders in those places. We would like to see another survey conducted approximately 10 years after the first, with additional surveys at similar intervals thereafter to give us a continuing measure of the genetic health of our breed and of the success of our educational efforts. We recommend that future efforts be planned farther in advance of implementation, so that issues such as the problem with the website version can be identified and corrected beforehand. We also recommend that, rather than using terms such as “Common” or “Somewhat Serious,” which are very much open to individual interpretation, that a number scale from most to least be employed. Finally, we would like to thank the 345 people who took the time to fill out the survey almost 40% of whom also took the extra time and effort to add comments to their responses. We quite literally could not have done this without you. Glossary Anterior Cross-bite - deformation of the lower jaw in which one side is longer than the other, resulting in a "crossing over" effect between the upper and lower incisors; also called "wry bite." Cataract - an opacity of the lens. Collie Eye Anomaly (CEA) - an eye disease affecting the retina and vascular tissue at the back of the eye. Congenital - present at birth; a congenital condition may be due to environmental factors (i.e. drugs given during gestation) or the result of the individual's genetic make-up. Dilution spots - discrete areas of diluted pigment in the coat. Distichiasis - the abnormal growth of one or more eyelashes toward the cornea. Dropped incisors - center lower incisors noticeably shorter than adjacent incisors, sometimes also slightly out of alignment with their neighbors. Elbow Dysplasia - any of several defects of the bones and soft tissue of the elbow joint, including, but not limited to, osteochondritis desicans. Epilepsy - a neurological disease typified by chronic and more-or-less regular seizures. Generalized demodecosis - a demodex mange infection that is chronic and tends to spread across the body. Hemophilia - a blood-clotting disorder. Hip dysplasia - a potentially crippling defect of the hip joint and surrounding soft tissue. Homozygous merle - a dog which has interited two copies of the merle gene, and as a result is usually mostly white and almost always deaf and/or blind. Hyperactive - an individual which will constantly be doing something; such dogs may become neurotic if unable to engage in a positive outlet for their energy. Iris coloboma - a congenital condition in which a portion of the iris fails to develop. Lupus - an autoimmune disease found in two forms: discoid (skin) and erythematosus (systemic.) Discoid cases can become systemic and the systemic form can be life-threatening. Obsessive/Compulsive - an individual with a behavioral defect compelling it to repeat certain behaviors over and over or fixate on something; may in some cases result from a neurological defect. Osteochondritis desicans (OCD) - a defect of joint cartilage, causing lameness; in dogs, most frequently seen in the elbows and shoulders. Patellar Luxation - slipping kneecaps. Patellas are located at the front of the stifle joint. Patent Ductus Arteriosus (PDA) - the failure of a fetal shunt which allows blood to by-pass the lungs to go away; can cause serious cardiac dysfunction and death. Pelger-Huet Anomaly (PHA) - a blood defect lethal to individuals inheriting two copies of the responsible gene. Persistent Pupilary Membrane (PPM) - iris tissue covering the pupil which is supposed to go away prior or shortly after birth. Porto-systemic Shunt - a fetal structure allowing blood to by-pass the liver which is supposed to go away before birth; if it remains it can cause serious liver problems. Progressive Retinal Atrophy (PRA) - a progressive degeneration of the retinal tissue. Rage syndrome - a neurological disorder typified by sudden, violent behavior; affected dogs will attack persons, other animals or inanimate objects without warning and then stop the attack just as suddenly, appearing unaware of what has happened. Thyroiditis - autoimmune disease of the thyroid gland. vonWillebrand's Disease (vWD) - a blood-clotting disorder. Wry bite - see anterior cross-bite.